Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia
about
Mutation altering the miR-184 seed region causes familial keratoconus with cataractA novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomalyA novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataractExome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.PAX6 gene analysis in irido-fundal coloboma.Analysis of FOXD3 sequence variation in human ocular disease.Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1PITX2 and FOXC1 spectrum of mutations in ocular syndromesGenetics of anterior segment dysgenesis disorders.Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genesAn epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Regulation of mouse lens maturation and gene expression by Krüppel-like factor 4Insight into the molecular genetics of myopia.Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
P2860
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P2860
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia
description
2010 nî lūn-bûn
@nan
2010 թուականին հրատարակուած գիտական յօդուած
@hyw
2010 թվականին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Identification of dominant FOX ...... ngenital cataract and aniridia
@ast
Identification of dominant FOX ...... ngenital cataract and aniridia
@en
Identification of dominant FOX ...... ngenital cataract and aniridia
@nl
type
label
Identification of dominant FOX ...... ngenital cataract and aniridia
@ast
Identification of dominant FOX ...... ngenital cataract and aniridia
@en
Identification of dominant FOX ...... ngenital cataract and aniridia
@nl
prefLabel
Identification of dominant FOX ...... ngenital cataract and aniridia
@ast
Identification of dominant FOX ...... ngenital cataract and aniridia
@en
Identification of dominant FOX ...... ngenital cataract and aniridia
@nl
P2093
P2860
P1433
P1476
Identification of dominant FOX ...... ngenital cataract and aniridia
@en
P2093
Dominique Brémond-Gignac
Elena V Semina
Henri Copin
Jeffrey C Murray
Linda M Reis
Pierre Bitoun
P2860
P304
P407
P577
2010-08-22T00:00:00Z