Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients-Reference-Cited by-同舟云学术

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

Published:2014-04-08 Issue:17 Volume:23 Page:4479-4490
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Callebaut I.,Joubrel R.,Pissard S.,Kannengiesser C.,Gerolami V.,Ged C.,Cadet E.,Cartault F.,Ka C.,Gourlaouen I.,Gourhant L.,Oudin C.,Goossens M.,Grandchamp B.,De Verneuil H.,Rochette J.,Ferec C.,Le Gac G.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/23/17/4479/2196563/ddu160.pdf

Reference38 articles.

1. Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease

2. Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload

3. Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment

4. The ferroportin disease

5. The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis

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