Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family

Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 2...

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Hauptverfasser: Gao, Xue, Wang, Guo-Jian, Yuan, Yong-Yi, Xin, Feng, Han, Ming-Yu, Lu, Jing-Qiao, Zhao, Hui, Yu, Fei, Xu, Jin-Cao, Zhang, Mei-Guang, Dong, Jiang, Lin, Xi, Dai, Pu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2014
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4117490/
https://ncbi.nlm.nih.gov/pubmed/25080338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0103415
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