Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
about
CD133 is a modifier of hematopoietic progenitor frequencies but is dispensable for the maintenance of mouse hematopoietic stem cells.Identification and validation of PROM1 and CRTC2 mutations in lung cancer patientsCongenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse modelMutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesLevels of circulating endothelial cells and colony-forming units are influenced by age and dyslipidemia.Commentary: "prom1 function in development, intestinal inflammation, and intestinal tumorigenesis".Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy.The stem cell marker prominin-1/CD133 interacts with vascular endothelial growth factor and potentiates its action.Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy.
P2860
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P2860
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին 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
Extended extraocular phenotype ...... al dominant macular dystrophy.
@ast
Extended extraocular phenotype ...... al dominant macular dystrophy.
@en
Extended extraocular phenotype ...... al dominant macular dystrophy.
@nl
type
label
Extended extraocular phenotype ...... al dominant macular dystrophy.
@ast
Extended extraocular phenotype ...... al dominant macular dystrophy.
@en
Extended extraocular phenotype ...... al dominant macular dystrophy.
@nl
prefLabel
Extended extraocular phenotype ...... al dominant macular dystrophy.
@ast
Extended extraocular phenotype ...... al dominant macular dystrophy.
@en
Extended extraocular phenotype ...... al dominant macular dystrophy.
@nl
P2093
P2860
P50
P356
P1476
Extended extraocular phenotype ...... al dominant macular dystrophy.
@en
P2093
Anthony T Moore
Elizabeth Redmond
Francesca I Arrigoni
Lindsey Clarke
Mar Matarin
Michel Michaelides
Michelle E McClements
Nigel Klein
Pamela J Thompson
Saifullah Mohamed
P2860
P2888
P304
P356
10.1038/EJHG.2010.147
P577
2010-09-22T00:00:00Z
P5875
P6179
1002239796