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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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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2011
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| 主題: | |
| オンライン･アクセス: | 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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