Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

BACKGROUND: Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis. M...

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Detalles Bibliográficos
Autores principales: Gao, Xue, Zhu, Qing-yan, Song, Yue-Shuai, Wang, Guo-Jian, Yuan, Yong-Yi, Xin, Feng, Huang, Sha-Sha, Kang, Dong-Yang, Han, Ming-Yu, Guan, Li-ping, Zhang, Jian-guo, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828584/
https://www.ncbi.nlm.nih.gov/pubmed/24206587
http://dx.doi.org/10.1186/1479-5876-11-284

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828584/
https://www.ncbi.nlm.nih.gov/pubmed/24206587
http://dx.doi.org/10.1186/1479-5876-11-284

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