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0030221927
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Mutation analysis in hereditary haemochromatosis
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A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
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Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Dranya DT, Risch NJ, Bacon BR, Wolff RK (1996) A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 13: 399-408
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The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression
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Feder JN, Tsuchihashi Z, Irrinki A, Lee VK, Mapa FA, Morikang E, Prass CE, Starnes SM, Wolff RK, Parkilla S, Sly WS, Schatzman RC (1997) The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression. J Biol Chem 272: 14025-14028
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The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
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Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 95: 1472-1477
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A soluble form of the HLA-G antigen is encoded by a messenger ribonucleic acid containing intron 4
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Alternative splicing of HLA-G transcripts yields proteins with primary structures resembling both class I and class II antigens
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Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract
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Parkkila S, Waheed A, Britton RS, Feder JN, Tsuchihashi Z, Schatzman RC, Bacon BR, Sly WS (1997) Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci USA 94: 2534-2539
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Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
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Rhodes DA, Raha-Chowdhury R, Cox TM, Trowsdale J (1997) Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet 34: 761-764
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Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
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Waheed A, Parkkila S, Zhou XY, Tomatsu S, Tsuchihashi Z, Feder JN, Schatzman RC, Britton RS, Bacon BR, Sly WS (1997) Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci USA 94: 12384-12389
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