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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Detalles Bibliográficos
Autores principales: 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, Weiss, Günter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324414/
https://www.ncbi.nlm.nih.gov/pubmed/22509377
http://dx.doi.org/10.1371/journal.pone.0035015

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