C282Y and H63D mutations of the hemochromatosis candidate gene in type 2 diabetes [4]

Diabetes Care

Volumn 22, Issue 3, 1999, Pages 525-526

  Fernandez Real, Jose Manuel ^a   Vendrell, Joan ^b   Baiget, Montserrat ^c   Gimferrer, Enric ^c   Ricart, Wifredo ^a  

^a HOSPITAL JOSEP TRUETA   (Spain)

^b Department of Endocrinology   (Spain)

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GENE MUTATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HEMOCHROMATOSIS; HUMAN; LETTER; NON INSULIN DEPENDENT DIABETES MELLITUS;

EID: 0033012124     PISSN: 01495992     EISSN: None     Source Type: Journal    
DOI: 10.2337/diacare.22.3.525     Document Type: Letter

References (12)

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3. Beutler E: The significance of the 187 G (H63D) mutation in hemochromatosis. Am J Hum Genet 61:762-776, 1997
4. Frayling T, Ellard S, Grove J, Walker M, Hattersley AT: C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes. Lancet 351:1933-1934, 1998
5. Braun J, Donner H, Plock K, Rau H, Usadel KH, Badenhoop K: Hereditary haemochromatosis mutations (HFE) in patients with type II diabetes mellitus. Diabetologia 41:983-984, 1998
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9. Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino MA, Piperno A, Girelli D, Roetto A, Franco B, Gasparini P, Camaschella C: Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 60:828-832, 1997
10. Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A, Justica B, Wolff R, De Sousa M: 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. Immunogenetics 47:404-410, 1998
11. Sampietro M, Piperno A, Lupica L, Arosio C, Vergani A, Corbetta N, Malosio I, Mattioli M, Francanzani AL, Cappellini MD, Fiorelli G, Fargion S: High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology 27:181-184, 1998
12. Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC: The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A 95:1472-1477, 1998