Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
about
Characterization of tissue-specific and developmentally regulated alternative splicing of exon 64 in the COL5A1 geneA novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyProfile of collagen gene expression in the glenohumeral capsule of patients with traumatic anterior instability of the shoulderClinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsHeart valve development: regulatory networks in development and diseaseClinical and genetic aspects of Ehlers-Danlos syndrome, classic type.The extracellular matrix of the dermis: flexible structures with dynamic functions.Varying presentations in patients with symptomatic type IV vascular Ehlers-Danlos syndrome.Joint hypermobility and headache: understanding the glue that binds the two together--part 1.Ehlers-Danlos syndrome, classical type.Identification of binding partners interacting with the α1-N-propeptide of type V collagen.
P2860
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P2860
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 2009
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
@en
Molecular mechanisms of classical Ehlers-Danlos syndrome
@nl
type
label
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
@en
Molecular mechanisms of classical Ehlers-Danlos syndrome
@nl
prefLabel
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
@en
Molecular mechanisms of classical Ehlers-Danlos syndrome
@nl
P2093
P2860
P356
P1433
P1476
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
@en
P2093
Anna L Mitchell
Jessica F Jennings
Peter H Byers
Ulrike Schwarze
P2860
P304
P356
10.1002/HUMU.21000
P577
2009-06-01T00:00:00Z