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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Main Authors: Dossena, Silvia, Nofziger, Charity, Brownstein, Zippora, Kanaan, Moien, Avraham, Karen B., Paulmichl, Markus
Formáid: Artigo
Teanga:Inglês
Foilsithe: S. Karger AG 2011
Ábhair:
Original Paper
Rochtain Ar Líne: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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