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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...

詳細記述

保存先:
書誌詳細
出版年:Int J Mol Sci
主要な著者: Roesch, Sebastian, Bernardinelli, Emanuele, Nofziger, Charity, Tóth, Miklós, Patsch, Wolfgang, Rasp, Gerd, Paulmichl, Markus, Dossena, Silvia
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2018
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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