Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation.

Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation.

BACKGROUND: Iron-refractory iron deficiency anaemia (IRIDA) is a rare disorder which was linked to mutations in two genes (SLC11A2 and TMPRSS6). Common polymorphisms within these genes were associated with serum iron levels. We identified a family of Serbian origin with asymptomatic non-consanguineo...

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Bibliographic Details
Main Authors: Anita Kloss-Brandstätter, Gertraud Erhart, Claudia Lamina, Bernhard Meister, Margot Haun, Stefan Coassin, Markus Seifert, Andreas Klein-Franke, Bernhard Paulweber, Lyudmyla Kedenko, Barbara Kollerits, Dorine W Swinkels, Sita H Vermeulen, Tessel E Galesloot, Florian Kronenberg, Günter Weiss
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3324414?pdf=render

Internet

http://europepmc.org/articles/PMC3324414?pdf=render

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