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...
Main Authors: | Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2014-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC4072665?pdf=render |
Similar Items
-
Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa
by: Zhen Yi, et al.
Published: (2020-06-01) -
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
by: Li Huang, et al.
Published: (2013-01-01) -
Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract
by: Ming-Fu Ma, et al.
Published: (2016-05-01) -
Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract
by: Peng Chen, et al.
Published: (2018-10-01) -
Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.
by: Yihua Yao, et al.
Published: (2017-01-01)