Die Hämochromatose 1 ist eine autosomal rezessive Eisenspeicherkrankheit, die durch Mutationen im HFE-Gen hervorgerufen wird. Das BMP2_gen zeigt offensichtlich eine Modifizierende Wirkung bei der Ausbildung des Phänotyps.
Hämochromatose | ||||
Hämochromatose 1 | ||||
BMP2 | ||||
HFE | ||||
Hämochromatose 2a | ||||
Hämochromatose 2b | ||||
Hämochromatose 3 | ||||
Hämochromatose 4 | ||||
Hämochromatose 5 | ||||
1. |
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2. |
Milet J et al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. |
3. |
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4. |
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5. |
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6. |
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7. |
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8. |
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9. |
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10. |
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11. |
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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. |
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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. |
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24. |
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25. |
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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. |
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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. |
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47. |
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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. |
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60. |
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61. |
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63. |
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64. |
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65. |
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66. |
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67. |
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68. |
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69. |
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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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76. |
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77. |
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78. |
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79. |
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80. |
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81. |
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82. |
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83. |
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84. |
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85. |
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86. |
Valberg LS et al. (1980) Clinical and biochemical expression of the genetic abnormality in idiopathic hemochromatosis. |
87. |
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88. |
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89. |
Elzouki AN et al. (1995) Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis. |
90. |
Hashimoto K et al. (1995) A gene outside the human MHC related to classical HLA class I genes. |
91. |
Calandro LM et al. (1995) Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F. |
92. |
Jazwinska EC et al. (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. |
93. |
Barton JC et al. (1994) Blood lead concentrations in hereditary hemochromatosis. |
94. |
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95. |
Goei VL et al. (1994) Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection. |
96. |
Yaouanq J et al. (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE) |
97. |
Jazwinska EC et al. (1993) Localization of the hemochromatosis gene close to D6S105. |
98. |
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99. |
el Kahloun A et al. (1993) Localization of seven new genes around the HLA-A locus. |
100. |
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101. |
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102. |
None (1996) Haemochromatosis: strike while the iron is hot. |
103. |
Feder JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. |
104. |
Totaro A et al. (1996) Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region. |
105. |
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106. |
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107. |
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108. |
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109. |
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110. |
Roberts AG et al. (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. |
111. |
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112. |
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113. |
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114. |
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115. |
Parkkila S et al. (1997) Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. |
116. |
Merryweather-Clarke AT et al. (1997) Global prevalence of putative haemochromatosis mutations. |
117. |
Feder JN et al. (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. |
118. |
Roth M et al. (1997) Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. |
119. |
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120. |
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121. |
Rhodes DA et al. (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. |
122. |
None (1997) The significance of the 187G (H63D) mutation in hemochromatosis. |
123. |
Jouanolle AM et al. (1997) A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. |
125. |
Beckman LE et al. () Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. |
126. |
Parkkila S et al. (1997) Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. |
127. |
None (1997) Haemochromatosis, HFE and genetic complexity. |
128. |
Mura C et al. (1997) Phenotype-genotype correlation in haemochromatosis subjects. |
129. |
None (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium. |
130. |
Feder JN et al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. |
131. |
None (1998) Targeted disruption of the HFE gene. |
132. |
Zhou XY et al. (1998) HFE gene knockout produces mouse model of hereditary hemochromatosis. |
133. |
Lebrón JA et al. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. |
134. |
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135. |
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136. |
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137. |
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138. |
Lonjou C et al. (1998) Allelic association under map error and recombinational heterogeneity: a tale of two sites. |
139. |
Burt MJ et al. (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening. |
140. |
None (1998) Celtic origin of the C282Y mutation of hemochromatosis. |
141. |
Powell LW et al. (1998) Diagnosis of hemochromatosis. |
142. |
Barton JC et al. (1998) Management of hemochromatosis. Hemochromatosis Management Working Group. |
143. |
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144. |
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145. |
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146. |
Waheed A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. |
147. |
Fleming RE et al. (1999) Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. |
148. |
Roy CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. |
149. |
Rochette J et al. (1999) Multicentric origin of hemochromatosis gene (HFE) mutations. |
150. |
Merryweather-Clarke AT et al. (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. |
151. |
Grove J et al. (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. |
152. |
Mura C et al. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. |
153. |
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154. |
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155. |
de Villiers JN et al. (1999) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. |
156. |
Jeffrey GP et al. (1999) Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. |
157. |
Olynyk JK et al. (1999) A population-based study of the clinical expression of the hemochromatosis gene. |
158. |
Gomez PS et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. |
159. |
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160. |
Noll WW et al. (1999) Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. |
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. |
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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. |
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186. |
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187. |
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188. |
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189. |
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190. |
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191. |
Merryweather-Clarke AT et al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. |
192. |
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194. |
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195. |
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196. |
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197. |
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198. |
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199. |
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200. |
Livesey KJ et al. (2004) The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. |
201. |
Robson KJ et al. (2004) Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. |
202. |
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203. |
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204. |
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205. |
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206. |
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207. |
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208. |
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209. |
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210. |
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211. |
McDermott JH et al. (2005) Hypogonadism in hereditary hemochromatosis. |
212. |
Ka C et al. (2005) The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein. |
213. |
Drakesmith H et al. (2005) HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis. |
214. |
Rohrlich PS et al. (2005) Direct recognition by alphabeta cytolytic T cells of Hfe, a MHC class Ib molecule without antigen-presenting function. |
215. |
Matas M et al. (2006) Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity. |
217. |
Sarić M et al. (2006) Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. |
218. |
Ludwiczek S et al. (2007) Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1. |
219. |
Adams PC et al. (2007) Haemochromatosis. |
220. |
Allen KJ et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis. |
221. |
Waalen J et al. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis. |
222. |
None (2008) Iron-overload-related disease in HFE hereditary hemochromatosis. |
223. |
Davis TM et al. (2008) Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. |
224. |
Le Gac G et al. (2008) Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. |
225. |
Benyamin B et al. (2009) Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. |
226. |
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227. |
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228. |
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229. |
OMIM.ORG article Omim 235200 |