Exome sequencing inHFEC282Y homozygous men with extreme phenotypes identifies aGNPATvariant associated with severe iron overload

Author:

McLaren Christine E.1,Emond Mary J.2,Subramaniam V. Nathan34,Phatak Pradyumna D.5,Barton James C.6,Adams Paul C.7,Goh Justin B.34,McDonald Cameron J.3,Powell Lawrie W.348,Gurrin Lyle C.9,Allen Katrina J.10,Nickerson Deborah A.11,Louie Tin2,Ramm Grant A.34,Anderson Gregory J.312,McLaren Gordon D.1314

Affiliation:

1. Department of Epidemiology; University of California; Irvine CA

2. Department of Biostatistics; University of Washington; Seattle WA

3. QIMR Berghofer Medical Research Institute; Brisbane Australia

4. Faculty of Medicine and Biomedical Sciences, The University of Queensland; Brisbane Australia

5. Rochester General Hospital; Rochester NY

6. Southern Iron Disorders Center; Birmingham AL

7. Department of Medicine; London Health Sciences Center; London Ontario Canada

8. Royal Brisbane & Women's Hospital; Brisbane Australia

9. Center for MEGA Epidemiology, The University of Melbourne; Melbourne Australia

10. Murdoch Childrens Research Institute; Melbourne Australia

11. Department of Genome Sciences; University of Washington; Seattle WA

12. School of Medicine and School of Chemistry and Molecular Bioscience; University of Queensland; Brisbane Australia

13. Department of Veterans Affairs Long Beach Healthcare System; Long Beach CA

14. Division of Hematology/Oncology, Department of Medicine; University of California; Irvine CA

Funder

National Institutes of Health

Publisher

Wiley

Subject

Hepatology

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