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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3667821/
https://ncbi.nlm.nih.gov/pubmed/23737954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0063832
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