Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene
about
Functional analysis of human mutations in homeodomain transcription factor PITX3Posterior polar cataract: genetic analysis of a large familyA splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigreeMutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.Posterior polar cataract: Minimizing risksNovel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Posterior polar cataract: A reviewA heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.
P2860
Q21093363-7B699801-3351-4320-B195-F7265FFEAB32Q28280532-C66869EA-2802-4708-BD07-1061F9625015Q33632166-78ACFA4F-DE38-4CE5-953B-10A21BB2C109Q36050125-EFA7B017-CA1C-4CFD-B724-A7A9CA312AD1Q36965768-6DFF16AE-5199-47E1-8FFC-7D088C266D51Q37171353-3C172597-E781-4F9A-AF40-A4F182D2FD7EQ37608059-C7121366-8B29-44A5-9210-1EC19968C3DBQ38130245-38294FF1-CFC6-4293-AA53-487000260ADEQ40156345-6089119E-A674-4A1E-9130-6190C19D9192Q41867594-4DCB3D0A-6848-424F-A5A4-187EAE187AC8
P2860
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Posterior polar cataract is th ...... ent mutation in the PITX3 gene
@ast
Posterior polar cataract is th ...... ent mutation in the PITX3 gene
@en
type
label
Posterior polar cataract is th ...... ent mutation in the PITX3 gene
@ast
Posterior polar cataract is th ...... ent mutation in the PITX3 gene
@en
prefLabel
Posterior polar cataract is th ...... ent mutation in the PITX3 gene
@ast
Posterior polar cataract is th ...... ent mutation in the PITX3 gene
@en
P2093
P2860
P356
P1476
Posterior polar cataract is th ...... ent mutation in the PITX3 gene
@en
P2093
Addison PK
Bhattacharya SS
Francis PJ
Ionides AC
P2860
P304
P356
10.1136/BJO.2004.053413
P407
P577
2005-02-01T00:00:00Z