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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Detalles Bibliográficos
Autores principales: Roesch, Sebastian, Bernardinelli, Emanuele, Nofziger, Charity, Tóth, Miklós, Patsch, Wolfgang, Rasp, Gerd, Paulmichl, Markus, Dossena, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796158/
https://www.ncbi.nlm.nih.gov/pubmed/29320412
http://dx.doi.org/10.3390/ijms19010209

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796158/
https://www.ncbi.nlm.nih.gov/pubmed/29320412
http://dx.doi.org/10.3390/ijms19010209

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