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2. Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Waheed A; Parkkila S; Zhou XY; Tomatsu S; Tsuchihashi Z; Feder JN; Schatzman RC; Britton RS; Bacon BR; Sly WS Proc Natl Acad Sci U S A; 1997 Nov; 94(23):12384-9. PubMed ID: 9356458 [TBL] [Abstract][Full Text] [Related]
3. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Feder JN; Penny DM; Irrinki A; Lee VK; Lebrón JA; Watson N; Tsuchihashi Z; Sigal E; Bjorkman PJ; Schatzman RC Proc Natl Acad Sci U S A; 1998 Feb; 95(4):1472-7. PubMed ID: 9465039 [TBL] [Abstract][Full Text] [Related]
4. Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. Bittencourt PL; Palácios SA; Couto CA; Cançado EL; Carrilho FJ; Laudanna AA; Kalil J; Gayotto LC; Goldberg AC Braz J Med Biol Res; 2002 Mar; 35(3):329-35. PubMed ID: 11887210 [TBL] [Abstract][Full Text] [Related]
5. HLA-H and associated proteins in patients with hemochromatosis. Beutler E; West C; Gelbart T Mol Med; 1997 Jun; 3(6):397-402. PubMed ID: 9234244 [TBL] [Abstract][Full Text] [Related]
6. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. Porto G; Alves H; Rodrigues P; Cabeda JM; Portal C; Ruivo A; Justiça B; Wolff R; De Sousa M Immunogenetics; 1998 Apr; 47(5):404-10. PubMed ID: 9510559 [TBL] [Abstract][Full Text] [Related]
7. Hemochromatosis: a genetic defect in iron metabolism. Jazwinska EC Bioessays; 1998 Jul; 20(7):562-8. PubMed ID: 9723005 [TBL] [Abstract][Full Text] [Related]
8. Analysis of HFE-codon 63/282 (H63D/C282Y) gene variants in mexican mestizos. Blood donors and patients with hereditary hemochromatosis. Ruiz-Argüelles GJ; Garcés-Eisele J; Gelbart T; Monroy-Barreto M; Reyes-Núñez V; Juárez-Morales JL; de Lourdes González-Garrido M; Ramírez-Cisneros FJ; Gallegos-Antúnez D Arch Med Res; 2000; 31(4):422-4. PubMed ID: 11068087 [TBL] [Abstract][Full Text] [Related]
9. Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies. Cézard C; Rabbind Singh A; Le Gac G; Gourlaouen I; Ferec C; Rochette J Blood Cells Mol Dis; 2014 Jan; 52(1):27-34. PubMed ID: 23953397 [TBL] [Abstract][Full Text] [Related]
10. A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. Jouanolle AM; Fergelot P; Gandon G; Yaouanq J; Le Gall JY; David V Hum Genet; 1997 Oct; 100(5-6):544-7. PubMed ID: 9341868 [TBL] [Abstract][Full Text] [Related]
11. Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique. Hellerbrand C; Bosserhoff AK; Seegers S; Lingner G; Wrede C; Lock G; Schölmerich J; Büttner R Scand J Gastroenterol; 2001 Nov; 36(11):1211-6. PubMed ID: 11686223 [TBL] [Abstract][Full Text] [Related]
12. Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families. Mercier G; Burckel A; Bathelier C; Boillat E; Lucotte G Genet Couns; 1998; 9(3):181-6. PubMed ID: 9777338 [TBL] [Abstract][Full Text] [Related]
13. Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I and BanI polymorphism in german patients with hereditary haemochromatosis. Gottschalk R; Seidl C; Schilling S; Braner A; Seifried E; Hoelzer D; Kaltwasser JP Eur J Immunogenet; 2000 Jun; 27(3):129-34. PubMed ID: 10940080 [TBL] [Abstract][Full Text] [Related]
14. [Genetic hemochromatosis and the HFE gene]. Moirand R Bull Acad Natl Med; 2000; 184(2):325-35; discussion 335-6. PubMed ID: 10989541 [TBL] [Abstract][Full Text] [Related]
16. [Relationship between HFE gene and hereditary hemochromatosis]. Meng H; Hou Y Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Apr; 19(2):159-62. PubMed ID: 11941597 [TBL] [Abstract][Full Text] [Related]
17. Genetic hemochromatosis, a Celtic disease: is it now time for population screening? Byrnes V; Ryan E; Barrett S; Kenny P; Mayne P; Crowe J Genet Test; 2001; 5(2):127-30. PubMed ID: 11551098 [TBL] [Abstract][Full Text] [Related]
18. Global prevalence of putative haemochromatosis mutations. Merryweather-Clarke AT; Pointon JJ; Shearman JD; Robson KJ J Med Genet; 1997 Apr; 34(4):275-8. PubMed ID: 9138148 [TBL] [Abstract][Full Text] [Related]
19. The role of hemochromatosis susceptibility gene mutations in protecting against iron deficiency in celiac disease. Butterworth JR; Cooper BT; Rosenberg WM; Purkiss M; Jobson S; Hathaway M; Briggs D; Howell WM; Wood GM; Adams DH; Iqbal TH Gastroenterology; 2002 Aug; 123(2):444-9. PubMed ID: 12145797 [TBL] [Abstract][Full Text] [Related]
20. Hemochromatosis in Ireland and HFE. Ryan E; O'keane C; Crowe J Blood Cells Mol Dis; 1998 Dec; 24(4):428-32. PubMed ID: 9851896 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]