A novel dominant GJB2 (DFNA3) mutation in a Chinese family

To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase c...

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Detalles Bibliográficos
Autores principales: Wang, Hongyang, Wu, Kaiwen, Yu, Lan, Xie, Linyi, Xiong, Wenping, Wang, Dayong, Guan, Jing, Wang, Qiuju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5244381/
https://www.ncbi.nlm.nih.gov/pubmed/28102197
http://dx.doi.org/10.1038/srep34425

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5244381/
https://www.ncbi.nlm.nih.gov/pubmed/28102197
http://dx.doi.org/10.1038/srep34425

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