Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.
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Crystal structure of the cataract-causing P23T γD-crystallin mutantTargeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.A novel human CRYGD mutation in a juvenile autosomal dominant cataractThe congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregationA recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese familiesCombinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese familyNovel mutations in CRYGD are associated with congenital cataracts in Chinese families.Hereditary pediatric cataract on the Arabian Peninsula.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses
P2860
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P2860
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 24 July 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Founder heterozygous P23T CRYG ...... cataract in 2 Saudi families.
@en
Founder heterozygous P23T CRYGD mutation associated with cerulean
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label
Founder heterozygous P23T CRYG ...... cataract in 2 Saudi families.
@en
Founder heterozygous P23T CRYGD mutation associated with cerulean
@nl
prefLabel
Founder heterozygous P23T CRYG ...... cataract in 2 Saudi families.
@en
Founder heterozygous P23T CRYGD mutation associated with cerulean
@nl
P2093
P2860
P1433
P1476
Founder heterozygous P23T CRYG ...... cataract in 2 Saudi families.
@en
P2093
Arif O Khan
Faisal E Ghadhfan
Mohammed A Aldahmesh
Saleh Al-Mesfer
P2860
P304
P577
2009-07-24T00:00:00Z