Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

Usher syndrome (USH) is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction. Here, we recruited three Chinese families affected with autosomal recessive USH for detailed clinical evaluations and for mutation screeni...

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Detalhes bibliográficos
Main Authors: Rong, Weining, Chen, Xue, Zhao, Kanxing, Liu, Yani, Liu, Xiaoxing, Ha, Shaoping, Liu, Wenzhou, Kang, Xiaoli, Sheng, Xunlun, Zhao, Chen
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4022727/
https://ncbi.nlm.nih.gov/pubmed/24831256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0097808
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