HuGE Literature Finder
Records 1-6
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 |
The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.
Liver international : official journal of the International Association for the Study of the Liver 2015 Oct . Funakoshi Natalie, Chaze Iphigénie, Alary Anne-Sophie, Tachon Gaëlle, Cunat Séverine, Giansily-Blaizot Muriel, Bismuth Michael, Larrey Dominique, Pageaux Georges-Philippe, Schved Jean-François, Donnadieu-Rigole Hélène, Blanc Pierre, Aguilar-Martinez Patric |
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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