Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with significant genetic heterogeneity. BBS is linked to mutations in 17 genes, which contain more than 200 coding exons. Currently, BBS is diagnosed by direct DNA sequencing for mutations in these genes, which because of the large genom...

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Bibliographic Details
Main Authors: Dong-Jun Xing, Hong-Xing Zhang, Na Huang, Kun-Chao Wu, Xiu-Feng Huang, Fang Huang, Yi Tong, Chi-Pui Pang, Jia Qu, Zi-Bing Jin
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3946549?pdf=render

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http://europepmc.org/articles/PMC3946549?pdf=render

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