Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare...
Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation
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Author / Creator
Kloss-Brandstätter, Anita , Erhart, Gertraud , Lamina, Claudia , Meister, Bernhard , Haun, Margot , Coassin, Stefan , Seifert, Markus , Klein-Franke, Andreas , Paulweber, Bernhard , Kedenko, Lyudmyla , Kollerits, Barbara , Swinkels, Dorine W , Vermeulen, Sita H , Galesloot, Tessel E , Kronenberg, Florian and Weiss, Günter
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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-consanguineous parents with three of four children presenting with IRIDA n...
Alternative Titles
Full title
Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation
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Record Identifier
TN_cdi_plos_journals_1324443930
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1324443930
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0035015
