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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Bibliographic Details
Main Authors: Huang, Xiu-Feng, Xiang, Ping, Chen, Jie, Xing, Dong-Jun, Huang, Na, Min, Qingjie, Gu, Feng, Tong, Yi, Pang, Chi-Pui, Qu, Jia, Jin, Zi-Bing
Format: Online
Language:English
Published: Public Library of Science 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667821/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667821/

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