Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in th...

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Detalles Bibliográficos
Autores principales: Gao, Xue, Su, Yu, Guan, Li-Ping, Yuan, Yong-Yi, Huang, Sha-Sha, Lu, Yu, Wang, Guo-Jian, Han, Ming-Yu, Yu, Fei, Song, Yue-Shuai, Zhu, Qing-Yan, Wu, Jing, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653921/
https://www.ncbi.nlm.nih.gov/pubmed/23690975
http://dx.doi.org/10.1371/journal.pone.0063026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653921/
https://www.ncbi.nlm.nih.gov/pubmed/23690975
http://dx.doi.org/10.1371/journal.pone.0063026

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