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Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria
The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austri...
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| 出版年: | Int J Mol Sci |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
MDPI
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5796158/ https://ncbi.nlm.nih.gov/pubmed/29320412 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19010209 |
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