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Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD. McLaren CE, et al. Among authors: powell lw. Hepatology. 2015 Aug;62(2):429-39. doi: 10.1002/hep.27711. Epub 2015 Mar 18. Hepatology. 2015. PMID: 25605615 Free PMC article.
GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.
Barton JC, Chen WP, Emond MJ, Phatak PD, Subramaniam VN, Adams PC, Gurrin LC, Anderson GJ, Ramm GA, Powell LW, Allen KJ, Phillips JD, Parker CJ, McLaren GD, McLaren CE. Barton JC, et al. Among authors: powell lw. Blood Cells Mol Dis. 2017 Mar;63:15-20. doi: 10.1016/j.bcmd.2016.11.009. Epub 2016 Nov 12. Blood Cells Mol Dis. 2017. PMID: 27936396 Free PMC article.
Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.
Barton JC, McLaren CE, Chen WP, Ramm GA, Anderson GJ, Powell LW, Subramaniam VN, Adams PC, Phatak PD, Gurrin LC, Phillips JD, Parker CJ, Emond MJ, McLaren GD. Barton JC, et al. Among authors: powell lw. Ann Hepatol. 2018 Aug 24;17(5):871-879. doi: 10.5604/01.3001.0012.3169. Ann Hepatol. 2018. PMID: 30145563 Free PMC article.
389 results