HuGE Literature Finder
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Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels. Blood cells, molecules & diseases 2020 Jul 85 102463. Secondes Eriza S, Wallace Daniel F, Rishi Gautam, McLaren Gordon D, McLaren Christine E, Chen Wen-Pin, Ramm Louise E, Powell Lawrie W, Ramm Grant A, Barton James C, Subramaniam V Nath |
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. Hepatology (Baltimore, Md.) 2015 Aug 62 (2): 429-39. 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 |
GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis. Annals of hepatology 0 15 (6): 907-910. Levstik Alexander, Stuart Alan, Adams Paul |
GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors. Annals of hepatology 0 16 (3): 451-456. Greni Federico, Valenti Luca, Mariani Raffaella, Pelloni Irene, Rametta Raffaela, Busti Fabiana, Ravasi Giulia, Girelli Domenico, Fargion Silvia, Galimberti Stefania, Piperno Alberto, Pelucchi Sa |
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. PloS one 0 11 (9): e0163322. Farrell Colin P, Overbey Jessica R, Naik Hetanshi, Nance Danielle, McLaren Gordon D, McLaren Christine E, Zhou Luming, Desnick Robert J, Parker Charles J, Phillips John |
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- Page last updated:Mar 22, 2023
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