Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic defects in p...

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Manylion Llyfryddiaeth
Prif Awduron: Xiu-Feng Huang, Ping Xiang, Jie Chen, Dong-Jun Xing, Na Huang, Qingjie Min, Feng Gu, Yi Tong, Chi-Pui Pang, Jia Qu, Zi-Bing Jin
Fformat: Erthygl
Iaith:English
Cyhoeddwyd: Public Library of Science (PLoS) 2013-01-01
Cyfres:PLoS ONE
Mynediad Ar-lein:http://europepmc.org/articles/PMC3667821?pdf=render

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http://europepmc.org/articles/PMC3667821?pdf=render

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