Article
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
Hepatology (Baltimore, Md.) - 1 Aug 2015
McLaren Christine E, Emond Mary J, Subramaniam V Nathan, Phatak Pradyumna D, Barton James C, Adams Paul C, Goh Justin B, McDonald Cameron J, Powell Lawrie W, Gurrin Lyle C, Allen Katrina J, Nickerson Deborah A, Louie Tin, Ramm Grant A, Anderson Gregory J, McLaren Gordon D
Abstract excerpt
UNLABELLED: To identify polymorphisms associated with variability of iron overload severity in HFE-associated hemochromatosis, we performed exome sequencing of DNA from 35 male HFE C282Y homozygotes with either markedly increased iron stores (n = 22; cases) or with normal or mildly increased iron stores (n = 13; controls). The 35 participants, residents of the United States, Canada, and Australia, reported no or...
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