Further Support for the Association of GNPAT Variant rs11558492 With Severe Iron Overload in Hemochromatosis

被引：12

作者：

Besson-Fournier, Celine ^{[1
]}

Martinez, Maria ^{[1
]}

Vinel, Jean-Pierre ^{[2
]}

Aguilar-Martinez, Patricia ^{[1
,3
]}

Coppin, Helene ^{[1
]}

Roth, Marie-Paule ^{[1
]}

机构：

[1] Fac Med Toulouse, INSERM, U1043, U317, F-31073 Toulouse, France

[2] Hop Purpan, CHU Toulouse, Dept Hepatogastroenterol, Toulouse, France

[3] Hop St Eloi, CHRU Montpellier, Lab Hematol, Montpellier, France

来源：

HEPATOLOGY | 2016年 / 63卷 / 06期

关键词：

MODIFIER GENE;

D O I：

10.1002/hep.28259

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：2054 / 2055

页数：2

共 4 条

[1] GNPAT Variant Associated With Severe Iron Overload in HFE Hemochromatosis [J].

Bardou-Jacquet, Edouard ;

de Tayrac, Marie ;

Mosser, Jean ;

Deugnier, Yves .

HEPATOLOGY, 2015, 62 (06) :1917-1918

[2] Glyceronephosphate O-acyltransferase as a hemochromatosis modifier gene: Another iron in the fire? [J].

Handa, Priya ;

Kowdley, Kris V. .

HEPATOLOGY, 2015, 62 (02) :337-339

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

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. .

HEPATOLOGY, 2015, 62 (02) :429-439

[4] CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients [J].

Pelucchi, Sara ;

Mariani, Raffaella ;

Calza, Stefano ;

Fracanzani, Anna Ludovica ;

Modignani, Giulia Litta ;

Bertola, Francesca ;

Busti, Fabiana ;

Trombini, Paola ;

Fraquelli, Mirella ;

Forni, Gian Luca ;

Girelli, Domenico ;

Fargion, Silvia ;

Specchia, Claudia ;

Piperno, Alberto .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (12) :1818-1825

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