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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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3828584/
https://ncbi.nlm.nih.gov/pubmed/24206587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1479-5876-11-284
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