Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.

Item
http://www.wikidata.org/entity/Q35158256
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesionExome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataractThe Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family.A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.
P2860

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.

Item
http://www.wikidata.org/entity/Q35158256
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին 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
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@ast
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@en
type
label
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@ast
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@en
prefLabel
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@ast
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@en
P1433
P1476
P2093
P2860
P304
P31
P478
P577
P698
P932
P1433
P1476
Cerulean cataract mapped to 12 ...... itiation codon mutation in MIP
@en
P2093
P2860
P304
P31
P478
P577
P698
P932