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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604269/
https://www.ncbi.nlm.nih.gov/pubmed/23526569
http://dx.doi.org/10.3342/ceo.2013.6.1.41

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604269/
https://www.ncbi.nlm.nih.gov/pubmed/23526569
http://dx.doi.org/10.3342/ceo.2013.6.1.41

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