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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Detalles Bibliográficos
Autores principales: Xing, Dong-Jun, Zhang, Hong-Xing, Huang, Na, Wu, Kun-Chao, Huang, Xiu-Feng, Huang, Fang, Tong, Yi, Pang, Chi-Pui, Qu, Jia, Jin, Zi-Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946549/
https://www.ncbi.nlm.nih.gov/pubmed/24608809
http://dx.doi.org/10.1371/journal.pone.0090599

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