Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene

PURPOSE: The aim of this study was to investigate the mutation spectrum and frequency of 34 known genes in 18 Chinese families with congenital cataracts. METHODS: Genomic DNA and clinical data was collected from 18 families with congenital cataracts. Variations in 34 cataract-associated genes were s...

Descripción completa

Detalles Bibliográficos
Autores principales: Sun, Wenmin, Xiao, Xueshan, Li, Shiqiang, Guo, Xiangming, Zhang, Qingjiong
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/PMC4072665/
https://www.ncbi.nlm.nih.gov/pubmed/24968223
http://dx.doi.org/10.1371/journal.pone.0100455

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072665/
https://www.ncbi.nlm.nih.gov/pubmed/24968223
http://dx.doi.org/10.1371/journal.pone.0100455

Ejemplares similares