Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family

Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family

<b>AIM:</b>To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2).<b>METHODS:</b>The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 1...

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Bibliographic Details
Main Authors: Wei Zhai, Xin Jin, Yan Gong, Ling-Hui Qu, Chen Zhao, Zhao-Hui Li
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2015-08-01
Series:International Journal of Ophthalmology
Subjects:
Usher syndrome
mutation
MYO7A
next-generation sequencing
Online Access:http://www.ijo.cn/en_publish/2015/4/20150405.pdf

Internet

http://www.ijo.cn/en_publish/2015/4/20150405.pdf

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