A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.
about
Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataractsCRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataractsIdentification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.Identification of long non-coding RNA and mRNA expression in βΒ2-crystallin knockout mice.
P2860
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P2860
A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
A novel Cx50 (GJA8) p.H277Y mu ...... ed next-generation sequencing.
@en
type
label
A novel Cx50 (GJA8) p.H277Y mu ...... ed next-generation sequencing.
@en
prefLabel
A novel Cx50 (GJA8) p.H277Y mu ...... ed next-generation sequencing.
@en
P2093
P2860
P1476
A novel Cx50 (GJA8) p.H277Y mu ...... ed next-generation sequencing.
@en
P2093
P2860
P2888
P304
P356
10.1007/S00417-015-3019-X
P577
2015-05-07T00:00:00Z