A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
about
Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataractA novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataractAssociation of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population.Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.Epidemiology and molecular genetics of congenital cataractsDisruption of Rest Leads to the Early Onset of Cataracts with the Aberrant Terminal Differentiation of Lens Fiber CellsSIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
P2860
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P2860
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
@en
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
@nl
type
label
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
@en
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
@nl
prefLabel
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
@en
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
@nl
P2093
P2860
P1433
P1476
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract
@en
P2093
Anthony T Moore
Naushin H Waseem
Peter J Francis
Quincy Prescott
Shomi S Bhattacharya
Vanita Berry
P2860
P304
P577
2011-05-06T00:00:00Z