A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.
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The Human W42R D-Crystallin Mutant Structure Provides a Link between Congenital and Age-related CataractsThe congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallinThe congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregationWild-type human γD-crystallin promotes aggregation of its oxidation-mimicking, misfolding-prone W42Q mutant.A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.A Combined NMR and SAXS Analysis of the Partially Folded Cataract-Associated V75D γD-Crystallin.A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.Dynamic disulfide exchange in a crystallin protein in the human eye lens promotes cataract-associated aggregation
P2860
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P2860
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին 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 novel CRYGD mutation (p.Trp4 ...... cataract in a Chinese family.
@ast
A novel CRYGD mutation (p.Trp4 ...... cataract in a Chinese family.
@en
A novel CRYGD mutation
@nl
type
label
A novel CRYGD mutation (p.Trp4 ...... cataract in a Chinese family.
@ast
A novel CRYGD mutation (p.Trp4 ...... cataract in a Chinese family.
@en
A novel CRYGD mutation
@nl
prefLabel
A novel CRYGD mutation (p.Trp4 ...... cataract in a Chinese family.
@ast
A novel CRYGD mutation (p.Trp4 ...... cataract in a Chinese family.
@en
A novel CRYGD mutation
@nl
P2093
P2860
P356
P1433
P1476
A novel CRYGD mutation (p.Trp4 ...... cataract in a Chinese family.
@en
P2093
Binbin Wang
Changhong Yu
Hong-Chen Cai
Shiyi Zhou
Sirui Zhou
P2860
P304
P356
10.1002/HUMU.21386
P577
2011-01-01T00:00:00Z