Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins

Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins

Item
http://www.wikidata.org/entity/Q24672878
Missense mutation in the alternative splice region of the PAX6 gene in eye anomaliesA new PAX6 mutation in familial aniridiaMutation of the PAX6 gene in patients with autosomal dominant keratitisPAX6 mutations: genotype-phenotype correlationsIdentification of novel mutant PAX6 alleles in Indian cases of familial aniridia.The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformationsMutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cellsPax-6 and lens-specific transcription of the chicken delta 1-crystallin gene.A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.Pax6- and Six3-mediated induction of lens cell fate in mouse and human ES cells.Increased corneal epithelial turnover contributes to abnormal homeostasis in the Pax6(+/-) mouse model of aniridiaThe eyeless homeodomain is dispensable for eye development in DrosophilaTranscriptional regulation of the mouse alpha A-crystallin gene: activation dependent on a cyclic AMP-responsive element (DE1/CRE) and a Pax-6-binding site.A complex array of positive and negative elements regulates the chicken alpha A-crystallin gene: involvement of Pax-6, USF, CREB and/or CREM, and AP-1 proteins.Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disordersGenetics of aniridia and anterior segment dysgenesis
P2860

Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins

Item
http://www.wikidata.org/entity/Q24672878
description
1994 nî lūn-bûn
@nan
1994 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Paired box mutations in famili ...... ts truncated aniridia proteins
@ast
Paired box mutations in famili ...... ts truncated aniridia proteins
@en
Paired box mutations in famili ...... ts truncated aniridia proteins
@nl
type
label
Paired box mutations in famili ...... ts truncated aniridia proteins
@ast
Paired box mutations in famili ...... ts truncated aniridia proteins
@en
Paired box mutations in famili ...... ts truncated aniridia proteins
@nl
prefLabel
Paired box mutations in famili ...... ts truncated aniridia proteins
@ast
Paired box mutations in famili ...... ts truncated aniridia proteins
@en
Paired box mutations in famili ...... ts truncated aniridia proteins
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P921
P932
P1433
P1476
Paired box mutations in famili ...... ts truncated aniridia proteins
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P921
P932