Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
about
Crystallin gene mutations in Indian families with inherited pediatric cataractCHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qA mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani familyThe EPHA2 gene is associated with cataracts linked to chromosome 1pMolecular and structural analysis of genetic variations in congenital cataractA new locus for autosomal recessive congenital cataract identified in a Pakistani family.Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Characterization of Copy Number Variation's Potential Role in Marek's DiseaseAutosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)Posttranslational modifications of the bovine lens beaded filament proteins filensin and CP49.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.Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3qMapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.Clinical and experimental advances in congenital and paediatric cataracts.A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigreeMutations in FYCO1 cause autosomal-recessive congenital cataracts.A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13qAnother evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.Missense Mutations in CRYAB Are Liable for Recessive Congenital CataractsiSyTE: integrated Systems Tool for Eye gene discovery.A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital CataractsDeletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsA robust transcriptional program in newts undergoing multiple events of lens regeneration throughout their lifespan.A novel GJA8 mutation causing a recessive triangular cataract.Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.A missense mutation in LIM2 causes autosomal recessive congenital cataractInsights into the beaded filament of the eye lens.Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese familyA new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.Congenital cataracts and their molecular geneticsA novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcorneaLens intermediate filaments
P2860
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P2860
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@ast
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@en
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@nl
type
label
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@ast
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@en
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@nl
prefLabel
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@ast
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@en
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@nl
P2093
P1433
P1476
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
@en
P2093
J Fielding Hejtmancik
Ramya Devi Ramachandran
Vijayalakshmi Perumalsamy
P2888
P304
P356
10.1007/S00439-006-0319-6
P577
2007-01-16T00:00:00Z
P6179
1008144015