Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.

Christine E McLaren, Mary J Emond, V Nathan Subramaniam, Pradyumna D Phatak, James C Barton, Paul C Adams, Justin B Goh, Cameron J McDonald, Lawrie W Powell, Lyle C Gurrin, Katrina J Allen, Deborah A Nickerson, Tin Louie, Grant A Ramm, Gregory J Anderson, Gordon D McLaren

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    Biochemistry, Genetics and Molecular Biology