A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II

Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. It has been shown that mutations in the USH2A gene are responsible for USH2. The authors herein describe a 34-year-...

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Detalhes bibliográficos
Main Authors: Boo, Sung Hyun, Song, Min-Jung, Kim, Hee-Jin, Cho, Yang-Sun, Chu, Hosuk, Ko, Moon-Hee, Chung, Won-Ho, Kim, Jong-Won, Hong, Sung Hwa
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3604269/
https://ncbi.nlm.nih.gov/pubmed/23526569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3342/ceo.2013.6.1.41
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