Novel gain of function mutation in theSLC40A1gene associated with hereditary haemochromatosis type 4-Reference-Cited by-同舟云学术

Novel gain of function mutation in theSLC40A1gene associated with hereditary haemochromatosis type 4

Published:2015-06 Issue:6 Volume:45 Page:672-676
ISSN:1444-0903
Container-title:Internal Medicine Journal
language:en
Short-container-title:Intern Med J

Author:

Chen S.-R.¹²,Yang L.-Q.³,Chong Y.-T.¹²,Jie Y.-S.¹²,Wu Y.-K.¹²,Yang J.³,Lin G.-L.¹²,Li X.-H.¹²

Affiliation:

1. Department of Infectious Diseases; The Third Affiliated Hospital of Sun-Yat-Sen University; GuangZhou China

2. Key Laboratory of Tropical Disease Control (Sun Yat-Sen University); Ministry of Education; GuangZhou China

3. Department of Infectious Diseases; The First People's Hospital of YueYang; YueYang China

Funder

Fundamental Research Funds for the Central Universities

Publisher

Wiley

Subject

Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/imj.12764/fullpdf

Reference31 articles.

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2. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis;Njajou;Nat Genet,2001

3. Ferroportin disease: a systematic meta-analysis of clinical and molecular findings;Mayr;J Hepatol,2010

4. Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis;Wallace;J Hepatol,2004

5. The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution;Stenson;Curr Protoc Bioinformatics,2012

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