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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2011
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| Assuntos: | |
| Acesso em linha: | 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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