Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary broncho-pulmonary disease

This large group of familial broncho-pulmonary disorders includes disturbances of cell metabolism and membrane function as well as dysfunctions of the muscular and nervous systems.

Systematic

Hereditary diseases
Hereditary bone disease
Hereditary broncho-pulmonary disease
Bronchiectasis with or without elevated sweat chloride
Bronchiectasis with or without elevated sweat chloride 1
SCNN1B
Bronchiectasis with or without elevated sweat chloride 2
SCNN1A
Bronchiectasis with or without elevated sweat chloride 3
SCNN1G
Cystinosis
CTNS
Fabry disease
GLA
Hereditary pulmonary embolism
Thromboembolic diseases
F2
F5
HABP2
MTHFR
PROC
PROS1
SERPINC1
THBD
VKORC1
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary metabolic diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary susceptibility to infections
Hereditary vascular disease
Hypertension

References:

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2.

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3.

Savov A et al. (1995) Double mutant alleles: are they rare?

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4.

Romey MC et al. (1999) First putative sequence alterations in the minimal CFTR promoter region.

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5.

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6.

Chanson M et al. (1999) Defective regulation of gap junctional coupling in cystic fibrosis pancreatic duct cells.

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7.

Haardt M et al. (1999) C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation.

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8.

Chang XB et al. (1999) Removal of multiple arginine-framed trafficking signals overcomes misprocessing of delta F508 CFTR present in most patients with cystic fibrosis.

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9.

Romey MC et al. () Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.

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10.

Reddy MM et al. (1999) Activation of the epithelial Na+ channel (ENaC) requires CFTR Cl- channel function.

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11.

Romey MC et al. (2000) A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression.

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12.

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13.

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14.

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15.

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16.

Dörk T et al. (2000) Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

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17.

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18.

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19.

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20.

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21.

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22.

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23.

Choi JY et al. (2001) Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.

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24.

Buratti E et al. (2001) Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping.

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25.

Rowntree RK et al. (2001) An element in intron 1 of the CFTR gene augments intestinal expression in vivo.

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26.

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27.

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28.

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29.

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30.

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31.

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32.

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33.

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34.

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35.

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36.

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37.

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38.

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39.

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40.

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41.

Yang H et al. (2003) Nanomolar affinity small molecule correctors of defective Delta F508-CFTR chloride channel gating.

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42.

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43.

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44.

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45.

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46.

Nunes V et al. (1992) Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.

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47.

Strong TV et al. (1992) Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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55.

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56.

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57.

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58.

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59.

Granell R et al. (1992) Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

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60.

Nunes V et al. (1992) A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.

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61.

Graham CA et al. (1992) Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.

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62.

Dean M et al. (1992) A 22-bp deletion in the coding region of the cystic fibrosis gene.

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63.

Cutting GR et al. (1992) Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

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64.

Kelley KA et al. (1992) Expression and chromosome localization of the murine cystic fibrosis transmembrane conductance regulator.

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65.

Lerer I et al. (1992) Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

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66.

Fanen P et al. (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

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67.

Claustres M et al. (1992) A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.

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68.

Hamosh A et al. (1992) Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

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69.

Ferrie RM et al. (1992) Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.

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70.

Denning GM et al. (1992) Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive.

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71.

Snouwaert JN et al. (1992) An animal model for cystic fibrosis made by gene targeting.

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72.

Osborne L et al. (1992) Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.

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73.

Gasparini P et al. (1992) Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

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74.

Dorin JR et al. (1992) Cystic fibrosis in the mouse by targeted insertional mutagenesis.

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75.

Grebe TA et al. (1992) Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.

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76.

Abeliovich D et al. (1992) Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.

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77.

Siegel D et al. (1992) Localization of the cystic fibrosis transmembrane conductance regulator (Cftr) to mouse chromosome 6.

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78.

Wang XF et al. (2003) Involvement of CFTR in uterine bicarbonate secretion and the fertilizing capacity of sperm.

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79.

Wilschanski M et al. (2003) Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations.

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80.

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81.

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82.

Groman JD et al. (2004) Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

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83.

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84.

Hefferon TW et al. (2004) A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.

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85.

Fischer H et al. (2004) Vitamin C controls the cystic fibrosis transmembrane conductance regulator chloride channel.

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86.

Audrézet MP et al. (2004) Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.

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87.

Egan ME et al. (2004) Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects.

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88.

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89.

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90.

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91.

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92.

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93.

Salvatore D et al. (2005) Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction.

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94.

Vergani P et al. (2005) CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains.

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95.

Clain J et al. (2005) A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.

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96.

Clain J et al. (2005) Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.

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97.

Pagani F et al. (2005) Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

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98.

Derichs N et al. (2005) Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.

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99.

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100.

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101.

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102.

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103.

Jin R et al. (2006) The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice.

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104.

Sun W et al. (2006) CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.

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105.

Bürger J et al. (1991) Genetic influences in the formation of nasal polyps.

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106.

Bal J et al. (1991) A cystic fibrosis patient homozygous for the nonsense mutation R553X.

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107.

Younger JM et al. (2006) Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator.

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108.

Di A et al. (2006) CFTR regulates phagosome acidification in macrophages and alters bactericidal activity.

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109.

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110.

Rich DP et al. (1990) Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells.

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111.

Cheng SH et al. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.

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112.

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113.

Chu CS et al. (1991) Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.

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114.

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115.

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116.

Ivaschenko TE et al. (1991) A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death.

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117.

Wang X et al. (2006) Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis.

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118.

Tata F et al. (1991) Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

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119.

Gregory RJ et al. (1991) Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.

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120.

Trapnell BC et al. (1991) Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis.

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121.

Marino CR et al. (1991) Localization of the cystic fibrosis transmembrane conductance regulator in pancreas.

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122.

Dörk T et al. (1991) Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

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123.

Morral N et al. (1991) CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

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124.

Zielenski J et al. (1991) A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

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125.

Hamosh A et al. (1991) Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

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White MB et al. (1991) A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene.

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135.

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136.

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137.

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142.

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144.

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145.

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147.

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148.

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150.

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151.

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152.

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153.

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154.

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155.

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156.

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157.

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158.

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159.

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160.

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161.

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162.

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163.

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164.

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165.

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166.

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167.

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168.

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169.

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170.

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171.

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172.

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173.

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174.

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175.

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176.

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177.

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178.

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179.

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180.

Will K et al. (1994) A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

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181.

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182.

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183.

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184.

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185.

Shoshani T et al. (1994) Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.

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186.

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187.

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188.

Romey MC et al. (1994) Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.

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189.

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190.

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191.

Leoni GB et al. (1995) A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

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192.

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193.

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194.

Jensen TJ et al. (1995) Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.

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195.

van Doorninck JH et al. (1995) A mouse model for the cystic fibrosis delta F508 mutation.

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196.

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209.

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210.

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211.

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212.

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213.

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216.

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224.

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225.

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226.

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227.

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228.

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229.

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232.

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233.

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234.

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239.

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242.

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243.

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245.

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247.

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248.

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249.

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250.

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251.

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252.

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253.

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254.

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255.

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256.

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257.

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