Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

USH2A mutations have been implicated in the disease etiology of several inherited diseases, including Usher syndrome type 2 (USH2), nonsyndromic retinitis pigmentosa (RP), and nonsyndromic deafness. The complex genetic and phenotypic spectrums relevant to USH2A defects make it difficult to manage pa...

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Bibliographic Details
Main Authors: Xue Chen, Xunlun Sheng, Xiaoxing Liu, Huiping Li, Yani Liu, Weining Rong, Shaoping Ha, Wenzhou Liu, Xiaoli Kang, Kanxing Zhao, Chen Zhao
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4136877?pdf=render

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http://europepmc.org/articles/PMC4136877?pdf=render

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