A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
about
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.Mutation analysis of 12 genes in Chinese families with congenital cataracts.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaCongenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.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.Advancement of congenital cataract in the responsible gene.A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmusA novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
P2860
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P2860
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 06 February 2009
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
A novel nonsense mutation in C ...... lear cataracts and microcornea
@en
A novel nonsense mutation in C ...... ear cataracts and microcornea.
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type
label
A novel nonsense mutation in C ...... lear cataracts and microcornea
@en
A novel nonsense mutation in C ...... ear cataracts and microcornea.
@nl
prefLabel
A novel nonsense mutation in C ...... lear cataracts and microcornea
@en
A novel nonsense mutation in C ...... ear cataracts and microcornea.
@nl
P2093
P2860
P1433
P1476
A novel nonsense mutation in C ...... lear cataracts and microcornea
@en
P2093
Songbin Fu
Tingting Zhao
Yangshan Ou
Yunjuan Su
P2860
P304
P577
2009-02-06T00:00:00Z