Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

BACKGROUND: Mutations in SLC26A4, which encodes pendrin, are a common cause of deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic enlarged vestibular aqueduct (EVA). The mutation spectrum of SLC26A4 varies widely among ethnic groups. To investigate the incidence of EV...

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Detalles Bibliográficos
Autores principales: Yuan, Yongyi, Guo, Weiwei, Tang, Jie, Zhang, Guozheng, Wang, Guojian, Han, Mingyu, Zhang, Xun, Yang, Shiming, He, David Z. Z., Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503781/
https://www.ncbi.nlm.nih.gov/pubmed/23185506
http://dx.doi.org/10.1371/journal.pone.0049984

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