The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor
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Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagenPremature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosaEpidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesDystrophic epidermolysis bullosa: a reviewThe cysteine-rich region of type VII collagen is a cystine knot with a new topologyPrevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa.Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-betaEpidermolysis bullosa: directions for future research and new challenges for treatment.Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.Epidermolysis bullosa acquisita.Epidermolysis bullosa: pathogenetic pathways from mutations to symptoms.Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases.Heparanase Inhibitors Facilitate the Assembly of the Basement Membrane in Artificial SkinType VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient.The role of laminins in basement membrane function.Unique mouse monoclonal antibodies reactive with maturation-related epitopes on type VII collagen.Serum levels of anti-type VII collagen antibodies detected by enzyme-linked immunosorbent assay in patients with epidermolysis bullosa acquisita are correlated with the severity of skin lesions.Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
P2860
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P2860
The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor
description
1992 nî lūn-bûn
@nan
1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
The large non-collagenous doma ...... mains of von Willebrand factor
@ast
The large non-collagenous doma ...... mains of von Willebrand factor
@en
The large non-collagenous doma ...... mains of von Willebrand factor
@nl
type
label
The large non-collagenous doma ...... mains of von Willebrand factor
@ast
The large non-collagenous doma ...... mains of von Willebrand factor
@en
The large non-collagenous doma ...... mains of von Willebrand factor
@nl
prefLabel
The large non-collagenous doma ...... mains of von Willebrand factor
@ast
The large non-collagenous doma ...... mains of von Willebrand factor
@en
The large non-collagenous doma ...... mains of von Willebrand factor
@nl
P2093
P3181
P356
P1476
The large non-collagenous doma ...... mains of von Willebrand factor
@en
P2093
A M Christiano
D T Woodley
L C Chung-Honet
L M Rosenbaum
M G Parente
R E Burgeson
P304
P3181
P356
10.1093/HMG/1.7.475
P407
P577
1992-10-01T00:00:00Z