GNPAT Variant Associated With Severe Iron Overload in HFE Hemochromatosis

被引：17

作者：

Bardou-Jacquet, Edouard ^{[1
,2
,3
]}

de Tayrac, Marie ^{[2
,4
,5
]}

Mosser, Jean ^{[2
,4
,5
]}

Deugnier, Yves ^{[1
,2
,3
]}

机构：

[1] CHU Rennes, French Reference Ctr Rare Iron Overload Dis Genet, Rennes, France

[2] Univ Rennes 1, Rennes, France

[3] INSERM, UMR 991, Rennes, France

[4] CNRS, UMR 6290, Rennes, France

[5] CHU Rennes, Serv Genet Mol & Genom, Rennes, France

来源：

HEPATOLOGY | 2015年 / 62卷 / 06期

关键词：

D O I：

10.1002/hep.27854

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：1917 / 1918

页数：2

共 2 条

[1] Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis [J].

de Tayrac, Marie ;

Roth, Marie-Paule ;

Jouanolle, Anne-Marie ;

Coppin, Helene ;

le Gac, Gerald ;

Piperno, Alberto ;

Ferec, Claude ;

Pelucchi, Sara ;

Scotet, Virginie ;

Bardou-Jacquet, Edouard ;

Ropert, Martine ;

Bouvet, Regis ;

Genin, Emmanuelle ;

Mosser, Jean ;

Deugnier, Yves .

JOURNAL OF HEPATOLOGY, 2015, 62 (03) :664-672

[2] 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

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