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

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

Reference31 articles.

1. Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding;Fleming;J Clin Invest,2001

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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