A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
about
The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallinZebrafish--on the move towards ophthalmological researchMultiple Aggregation Pathways in Human γS-Crystallin and Its Aggregation-Prone G18V Variant.Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataractA nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.
P2860
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P2860
A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
A novel mutation impairing the ...... in humans and zebrafish lens.
@en
A novel mutation impairing the tertiary structure and stability of γC-crystallin
@nl
type
label
A novel mutation impairing the ...... in humans and zebrafish lens.
@en
A novel mutation impairing the tertiary structure and stability of γC-crystallin
@nl
prefLabel
A novel mutation impairing the ...... in humans and zebrafish lens.
@en
A novel mutation impairing the tertiary structure and stability of γC-crystallin
@nl
P2093
P2860
P356
P1433
P1476
A novel mutation impairing the ...... n in humans and zebrafish lens
@en
P2093
Cai-Ling Lu
Fan-Chen Bao
Guang-Yu Zhao
Hong-Chen Cai
Ju-Hua Yang
Wei-Jie Zhao
Xiao-Bo Gao
Xiao-Qiao Li
P2860
P304
P356
10.1002/HUMU.21648
P577
2011-12-08T00:00:00Z