A Novel Frameshift Mutation of the 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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Hlavní autoři: Sung Hyun Boo, Min-Jung Song, Hee-Jin Kim, Yang-Sun Cho, Hosuk Chu, Moon-Hee Ko, Won-Ho Chung, Jong-Won Kim, Sung Hwa Hong
Médium: Artigo
Jazyk:Inglês
Vydáno: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2013-03-01
Edice:Clinical and Experimental Otorhinolaryngology
Témata:
Usher syndrome type II
USH2A
Mutation
Frameshift
Korea
On-line přístup:http://www.e-ceo.org/upload/pdf/ceo-6-41.pdf
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