Dan Roden
Faculty Member
Last active: 3/24/2020

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
Am J Hum Genet. 2015 97 (4): 512-20

PMID: 26365338 · PMCID: PMC4596892 · DOI:10.1016/j.ajhg.2015.08.008

MeSH Terms (21)

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 States

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