Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family

We report the genetic analysis of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family. Using whole exome sequencing, we identified a missense variant (c.130C>T, p.R44C) in the MCM2 gene, which has a pro-apoptosis effect and is involved in the initiation of...

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Detalles Bibliográficos
Autores principales: Gao, Juanjuan, Wang, Qi, Dong, Cheng, Chen, Siqi, Qi, Yu, Liu, Yuhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510057/
https://www.ncbi.nlm.nih.gov/pubmed/26196677
http://dx.doi.org/10.1371/journal.pone.0133522

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510057/
https://www.ncbi.nlm.nih.gov/pubmed/26196677
http://dx.doi.org/10.1371/journal.pone.0133522

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