Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

American Journal of Human Genetics

Volumn 97, Issue 4, 2015, Pages 512-520

  Gallego, Carlos J ^a,b   Burt, Amber ^a   Sundaresan, Agnes S ^c   Ye, Zi ^d   Shaw, Christopher ^a   Crosslin, David R ^a   Crane, Paul K ^a   Fullerton, S Malia ^a   Hansen, Kris ^e   Carrell, David ^e   Kuivaniemi, Helena ^f   Derr, Kimberly ^f   De Andrade, Mariza ^d   McCarty, Catherine A ^g   Kitchner, Terrie E ^h   Ragon, Brittany K ⁱ   Stallings, Sarah C ^j   Papa, Gabriella ^j   Bochenek, Joseph ^j   Smith, Maureen E ^k   Aufox, Sharon A ^k   Pacheco, Jennifer A ^k   Patel, Vaibhav ^k   Friesema, Elisha M ^k   Erwin, Angelika Ludtke ^l   Gottesman, Omri ^l   Gerhard, Glenn S ^m   Ritchie, Marylyn ⁿ   Motulsky, Arno G ^a   Kullo, Iftikhar J ^d   Larson, Eric B ^e   Tromp, Gerard ^f   Brilliant, Murray H ^h   Bottinger, Erwin ^l   Denny, Joshua C ^j   Roden, Dan M ^j,o   Williams, Marc S ^c   Jarvik, Gail P ^a   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c GEISINGER HEALTH SYSTEM   (United States)

^d MAYO CLINIC   (United States)

^e CENTER FOR HEALTH STUDIES   (United States)

^f WEIS CENTER FOR RESEARCH   (United States)

^g ESSENTIA INSTITUTE OF RURAL HEALTH   (United States)

^h MARSHFIELD CLINIC   (United States)

ⁱ UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^j VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^k NORTHWESTERN UNIVERSITY   (United States)

^l MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^m TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ PENNSYLVANIA STATE UNIVERSITY   (United States)

^o VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

eMERGE Network; hemochromatosis; hereditary hemochromatosis; HFE; iron overload; multicenter cohort; p.Cys282Tyr; penetrance; return of results

Indexed keywords

FERRITIN; TRANSFERRIN; HEMOCHROMATOSIS PROTEIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

ADULT; ARTHRITIS; ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; ELECTRONIC MEDICAL RECORD; FEMALE; FERRITIN BLOOD LEVEL; GENE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HEART DISEASE; HEMOCHROMATOSIS; HETEROZYGOTE; HFE GENE; HOMOZYGOTE; HUMAN; IRON OVERLOAD; LIVER BIOPSY; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; PENETRANCE; PRIORITY JOURNAL; AGED; AMINO ACID SUBSTITUTION; CHILD; CLINICAL TRIAL; COHORT ANALYSIS; COMPARATIVE STUDY; FOLLOW UP; GENETIC VARIATION; GENETICS; MIDDLE AGED; MULTICENTER STUDY; PROGNOSIS; UNITED STATES;

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;

EID: 84952717626     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.08.008     Document Type: Article

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