Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kinesin-ähnliches Protein KIF1B

Das KIF1B-Gen kodiert ein Protein, welches für den Transport von Mitochondrien und synaptischen Vesikeln entlang der Axone verantwortliche ist. Mutationen verursachen autosomal dominante Erkrankungen wie Phäochromozytom und Charcot-Marie-Tooth-Erkrankung.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Phäochromozytom
GDNF
KIF1B
MAX
RET
SDHB
SDHD
TMEM127
VHL

Referenzen:

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65.

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66.

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67.

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68.

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70.

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71.

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72.

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73.

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74.

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75.

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92.

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97.

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98.

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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.

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104.

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105.

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106.

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107.

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108.

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113.

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114.

None (1993) Glucokinase and candidate genes for type 2 (non-insulin-dependent) diabetes mellitus.

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119.

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120.

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121.

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122.

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131.

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148.

None (1998) Weighing in on diabetes risk.

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149.

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150.

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152.

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153.

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154.

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155.

Anderson JL et. al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.

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156.

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157.

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160.

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161.

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162.

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163.

None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

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164.

None (2000) Oxygen sensing by the carotid body chemoreceptors.

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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.

None (2001) Premature atherosclerosis associated with monogenic insulin resistance.

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175.

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176.

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177.

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178.

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184.

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190.

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