Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP
(2015)
Am J Hum Genet 97: 512-20
MeSH Terms: Adult, Aged, Amino Acid Substitution, Child, Cohort Studies, Female, Follow-Up Studies, Genetic Variation, Genotype, Hemochromatosis, Hemochromatosis Protein, Heterozygote, Histocompatibility Antigens Class I, Homozygote, Humans, Male, Membrane Proteins, Middle Aged, Penetrance, Prognosis, United StatesAdded March 14, 2018