Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.
about
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese familyTargeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.
P2860
Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Combinational analysis of link ...... mily with congenital cataract.
@ast
Combinational analysis of link ...... mily with congenital cataract.
@en
type
label
Combinational analysis of link ...... mily with congenital cataract.
@ast
Combinational analysis of link ...... mily with congenital cataract.
@en
prefLabel
Combinational analysis of link ...... mily with congenital cataract.
@ast
Combinational analysis of link ...... mily with congenital cataract.
@en
P2093
P2860
P356
P1433
P1476
Combinational analysis of link ...... mily with congenital cataract.
@en
P2093
Donglin Sun
Haiming Sun
Linghan Gao
Rongwei Guan
Songbin Fu
Wenjing Sun
Xuelong Zhang
Xueyuan Jia
P2860
P2888
P356
10.1186/1471-2350-14-107
P50
P577
2013-10-08T00:00:00Z
P5875
P6179
1030184203