Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
about
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helixOrder of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type IExtracellular matrix molecules: potential targets in pharmacotherapy.A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.Caffey disease: an unlikely collagenopathy.Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.Heritable collagen disorders: from genotype to phenotype.Collagens and collagen-related diseases.Molecular genetics of rhegmatogenous retinal detachment.Asthma and airways collapse in two heritable disorders of connective tissueDisorders of human dentinThe human gene connectome as a map of short cuts for morbid allele discovery.Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsExpression and deposition of fibrous extracellular matrix proteins in cardiac valves during chick development.Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.What we should know before using tissue engineering techniques to repair injured tendons: a developmental biology perspectiveMolecular and developmental mechanisms of congenital heart valve disease.The Ehlers-Danlos syndrome, a disorder with many faces.The collagenopathies: review of clinical phenotypes and molecular correlations.The neuromuscular differential diagnosis of joint hypermobility.The Ehlers-Danlos syndromes, rare types.Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.A four-generation Ehlers-Danlos syndrome with vascular dissections. Skin ultrastructure and biomechanical properties.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Classical Ehlers-Danlos syndrome: clinical, Histological and ultrastructural aspects.Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.Understanding Tendons: Lessons from Transgenic Mouse Models
P2860
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P2860
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
description
2000 nî lūn-bûn
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2000 թուականի Մարտին հրատարակուած գիտական յօդուած
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2000 թվականի մարտին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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name
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen
@nl
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
@ast
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
@en
type
label
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen
@nl
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
@ast
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
@en
prefLabel
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen
@nl
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
@ast
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
@en
P2093
P2860
P356
P1476
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
@en
P2093
P2860
P304
P356
10.1086/302859
P407
P577
2000-03-17T00:00:00Z