CRYBA4, a novel human cataract gene, is also involved in microphthalmia
about
Anophthalmia and microphthalmiaCrystallin gene mutations in Indian families with inherited pediatric cataractCHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qMutational screening of 10 genes in Chinese patients with microphthalmia and/or colobomaThe EPHA2 gene is associated with cataracts linked to chromosome 1pMolecular and structural analysis of genetic variations in congenital cataractChanges in protein profiles of guinea pig sclera during development of form deprivation myopia and recoveryMicrophthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)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 missense mutation in CRYBA4 associated with congenital cataract and microcornea.Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsWhole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaHuman cataract mutations in EPHA2 SAM domain alter receptor stability and function.Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus.A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese familyCombinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.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.A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13qMolecular characterization of mouse lens epithelial cell lines and their suitability to study RNA granules and cataract associated genesiSyTE: integrated Systems Tool for Eye gene discovery.Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.The human crystallin gene familiesA novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataractNonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.Congenital cataracts and their molecular geneticsIdentification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcorneaA novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.Roles of EphA2 in Development and Disease.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Identification of a novel mutation of the gene for gap junction protein α3 (GJA3) in a Chinese family with congenital cataract.Autosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation.Associations between CRYBA4 gene variants and high myopia in a Japanese population.
P2860
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P2860
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
description
2006 nî lūn-bûn
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2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
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name
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@ast
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@en
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@en-gb
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@nl
type
label
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@ast
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@en
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@en-gb
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@nl
prefLabel
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@ast
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@en
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@en-gb
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@nl
P2093
P2860
P50
P3181
P356
P1476
CRYBA4, a novel human cataract gene, is also involved in microphthalmia
@en
P2093
Gail Billingsley
Perumalsamy Vijayalakshmi
Pudhiya Mundyat Gopinath
Sathiyavedu T Santhiya
Shyam Manohar Manisastry
P2860
P304
P3181
P356
10.1086/507712
P407
P577
2006-08-17T00:00:00Z