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Functional Characterization of Pendrin Mutations Found in the Israeli and Palestinian Populations

BACKGROUND: Pendrin is a transport protein exchanging chloride for other anions, such as iodide in the thyroid gland or bicarbonate in the inner ear. Mutations in the SLC26A4 gene encoding for pendrin are responsible for both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged ves...

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Detalhes bibliográficos
Main Authors: Dossena, Silvia, Nofziger, Charity, Brownstein, Zippora, Kanaan, Moien, Avraham, Karen B., Paulmichl, Markus
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3709187/
https://ncbi.nlm.nih.gov/pubmed/22116360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000335109
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