Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.
about
A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataractA novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Congenital cataracts: de novo gene conversion event in CRYBB2.Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigreeMutation analysis of 12 genes in Chinese families with congenital cataracts.Different alpha crystallin expression in human age-related and congenital cataract lens epithelium.A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcorneaProtein-protein interactions and lens transparency.A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lensesWhole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.
P2860
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P2860
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Nonsense mutation in the CRYBB ...... congenital coronary cataracts.
@ast
Nonsense mutation in the CRYBB ...... congenital coronary cataracts.
@en
type
label
Nonsense mutation in the CRYBB ...... congenital coronary cataracts.
@ast
Nonsense mutation in the CRYBB ...... congenital coronary cataracts.
@en
prefLabel
Nonsense mutation in the CRYBB ...... congenital coronary cataracts.
@ast
Nonsense mutation in the CRYBB ...... congenital coronary cataracts.
@en
P2093
P2860
P1433
P1476
Nonsense mutation in the CRYBB ...... congenital coronary cataracts.
@en
P2093
Fei-feng Li
Meng Zhang
Shang-zhi Huang
Shu-zhen Wang
Si-quan Zhu
P2860
P304
P577
2008-04-24T00:00:00Z