Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
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Col4a1 mutations cause progressive retinal neovascular defects and retinopathyEndoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XChanging genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationshipsPeroxidasin is essential for eye development in the mouseMolecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke PreventionType IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain?ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.Extracellular chloride signals collagen IV network assembly during basement membrane formationGenotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.Blake's pouch cyst in 13q deletion syndrome: Posterior fossa malformations may occur due to disruption of multiple genes
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P2860
Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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name
Allelic heterogeneity contribu ...... y Col4a1 and Col4a2 mutations.
@en
Allelic heterogeneity contribu ...... y Col4a1 and Col4a2 mutations.
@nl
type
label
Allelic heterogeneity contribu ...... y Col4a1 and Col4a2 mutations.
@en
Allelic heterogeneity contribu ...... y Col4a1 and Col4a2 mutations.
@nl
prefLabel
Allelic heterogeneity contribu ...... y Col4a1 and Col4a2 mutations.
@en
Allelic heterogeneity contribu ...... y Col4a1 and Col4a2 mutations.
@nl
P2093
P2860
P356
P1476
Allelic heterogeneity contribu ...... by Col4a1 and Col4a2 mutations
@en
P2093
Cassandre Labelle-Dumais
Debbie S Kuo
Douglas B Gould
Jack Favor
Jennifer Allen
Marion Jeanne
P2860
P304
P356
10.1093/HMG/DDT560
P577
2013-11-07T00:00:00Z