Identification of Allelic Variants of Pendrin (SLC26A4) with Loss and Gain of Function

BACKGROUND: Pendrin is a multifunctional anion transporter that exchanges chloride and iodide in the thyroid, as well as chloride and bicarbonate in the inner ear, kidney and airways. Loss or reduction in the function of pendrin results in both syndromic (Pendred syndrome) and non-syndromic (non-syn...

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Bibliografiset tiedot
Päätekijät: Dossena, Silvia, Bizhanova, Aigerim, Nofziger, Charity, Bernardinelli, Emanuele, Ramsauer, Josef, Kopp, Peter, Paulmichl, Markus
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: S. Karger AG 2011
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Original Paper
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3709191/
https://ncbi.nlm.nih.gov/pubmed/22116359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000335108
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