A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
about
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese familyMutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.Novel human CRYGD rare variant in a Brazilian family with congenital cataractMutation analysis of 12 genes in Chinese families with congenital cataracts.A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcorneaInherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus
P2860
Q33671000-7BAD1CFC-DAB0-4C5C-9E58-C64E3F3B7E3AQ33758626-D1E849AA-3320-40FA-B683-74F957ED8F85Q34693091-B1495068-26AC-4B28-A19C-830F7D409FC5Q35175320-62CE36A2-0F3F-444F-B493-2C4E5F54BF79Q35175335-DB403F97-88CE-425C-8FD4-AF8A1CE5E187Q35683432-06BE4284-A023-446F-8572-E865464D2B9FQ36145979-91DDF77D-5E52-451C-8860-2EE263C22BECQ36634659-9FCDCA3D-8BDA-4DC5-BD91-4C2B1BBEA6FDQ36675879-ADD61571-32E9-4ACD-84A6-6B6599AC98DEQ36766108-6E9ADA71-A3BD-439A-877F-1AA4B704FD3FQ37083758-EF9FA7E7-C8BC-44CC-9F8B-6F83CABAAC6AQ39370800-C6BF337C-AF77-4900-A84C-81E3FFF609F1Q41231073-6E759987-DEA1-460D-BD39-DF36F45C811E
P2860
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
description
2008 nî lūn-bûn
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2008 թուականին հրատարակուած գիտական յօդուած
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2008 թվականին հրատարակված գիտական հոդված
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2008年の論文
@ja
2008年論文
@yue
2008年論文
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2008年論文
@zh-hk
2008年論文
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2008年論文
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2008年论文
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name
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@ast
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@en
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@en-gb
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@nl
type
label
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@ast
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@en
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@en-gb
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@nl
prefLabel
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@ast
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@en
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@en-gb
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@nl
P2093
P2860
P921
P1433
P1476
A nonsense mutation in CRYGC a ...... r cataract in a Chinese family
@en
P2093
Chongfei Jin
Xingchao Shentu
P2860
P304
P407
P577
2008-07-09T00:00:00Z