A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q
about
Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell deathA novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.Connexin mutants and cataractsA novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.
P2860
Q30455193-1E650311-1BDE-40D3-BFC8-0CDC2F8F553EQ34652632-CA4A697D-7CC7-4F4B-A738-E576BCA73C58Q34982845-0CD2B8B4-4897-497F-A385-0B4921AFE122Q36145990-9B42DC12-CACB-46B3-BB51-92FA5F8F3D22Q36763879-335EB4FE-FF91-4B1D-AD30-B1125C032224Q36765767-41B7FDEF-CB22-44DF-A2F9-7F965B5097BFQ36951189-C20CE37C-39EC-4A86-9307-EA9D93A75B57Q39370800-D2B0647A-CF8B-49FA-A1D2-0E75921B072D
P2860
A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A recurrent missense mutation ...... aract linked to chromosome 13q
@ast
A recurrent missense mutation ...... aract linked to chromosome 13q
@en
type
label
A recurrent missense mutation ...... aract linked to chromosome 13q
@ast
A recurrent missense mutation ...... aract linked to chromosome 13q
@en
prefLabel
A recurrent missense mutation ...... aract linked to chromosome 13q
@ast
A recurrent missense mutation ...... aract linked to chromosome 13q
@en
P2860
P1433
P1476
A recurrent missense mutation ...... aract linked to chromosome 13q
@en
P2093
Alan Shiels
Thomas M Bennett
P2860
P304
P577
2011-08-20T00:00:00Z