Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
about
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDSDevelopment of a functional skin matrix requires deposition of collagen V heterotrimersQuantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.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.Control of heterotypic fibril formation by collagen V is determined by chain stoichiometry.Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic DiseaseWhole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Ehlers-Danlos syndrome, classical type.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.
P2860
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P2860
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
description
2000 nî lūn-bûn
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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Compound heterozygosity for a ...... of intrafamilial variability?
@ast
Compound heterozygosity for a ...... of intrafamilial variability?
@en
type
label
Compound heterozygosity for a ...... of intrafamilial variability?
@ast
Compound heterozygosity for a ...... of intrafamilial variability?
@en
prefLabel
Compound heterozygosity for a ...... of intrafamilial variability?
@ast
Compound heterozygosity for a ...... of intrafamilial variability?
@en
P2860
P1476
Compound heterozygosity for a ...... of intrafamilial variability?
@en
P2093
P2860
P356
10.1002/(SICI)1096-8628(20000103)90:1<72::AID-AJMG13>3.0.CO;2-C
P577
2000-01-01T00:00:00Z