about
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin geneConnexin46 mutations in autosomal dominant congenital cataract.Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataractsCRYBA4, a novel human cataract gene, is also involved in microphthalmiaA nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese familyThe gamma-crystallins and human cataracts: a puzzle made clearerMethylation and carbamylation of human gamma-crystallinsMolecular basis of a progressive juvenile-onset hereditary cataractCrystal structure of the cataract-causing P23T γD-crystallin mutantStructure of the crystallinsA temperature-sensitive mutation of Crygs in the murine Opj cataract.A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.Vision impairment predicts five-year mortality.Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosisMutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese familyAltered phase diagram due to a single point mutation in human gammaD-crystallin.Formation of amyloid fibrils in vitro by human gammaD-crystallin and its isolated domains.Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family.A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts.Evaluation of three canine gamma-crystallins (CRYGB, CRYGC, and CRYGS) as candidates for hereditary cataracts in the dachshundAutosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation.Bilateral cataract induced by unilateral UVR-B exposure -- evidence for an inflammatory response.Associations between CRYBA4 gene variants and high myopia in a Japanese population.Autosomal dominant cataracts and Peters anomaly in a large Australian family.Molecular Genetics of Cataract.Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts.
P2860
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P2860
description
1998 nî lūn-bûn
@nan
1998 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մարտին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
The genetics of cataract: our vision becomes clearer.
@ast
The genetics of cataract: our vision becomes clearer.
@en
The genetics of cataract: our vision becomes clearer.
@nl
type
label
The genetics of cataract: our vision becomes clearer.
@ast
The genetics of cataract: our vision becomes clearer.
@en
The genetics of cataract: our vision becomes clearer.
@nl
prefLabel
The genetics of cataract: our vision becomes clearer.
@ast
The genetics of cataract: our vision becomes clearer.
@en
The genetics of cataract: our vision becomes clearer.
@nl
P2860
P356
P1476
The genetics of cataract: our vision becomes clearer.
@en
P2093
Hejtmancik JF
P2860
P304
P356
10.1086/301774
P407
P577
1998-03-01T00:00:00Z