Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations

A Chinese family was identified with clinical features of enlarged vestibular aqueduct syndrome (EVAS). The mutational analysis showed that the proband (III-2) had EVAS with bilateral sensorineural hearing loss and carried a rare compound heterozygous mutation of SLC26A4 (IVS7-2A>G, c.2167C>G)...

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Detalles Bibliográficos
Autores principales: Yao, Jun, Qian, Xuli, Bao, Jingxiao, Wei, Qinjun, Lu, Yajie, Zheng, Heng, Cao, Xin, Xing, Guangqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451684/
https://www.ncbi.nlm.nih.gov/pubmed/26035154
http://dx.doi.org/10.1038/srep10831

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451684/
https://www.ncbi.nlm.nih.gov/pubmed/26035154
http://dx.doi.org/10.1038/srep10831

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