Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.
about
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 bullosaMapping of epidermolysis bullosa simplex mutation to chromosome 12Dystrophic epidermolysis bullosa: a reviewLinkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expressionThe genetics of human skin disease.Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.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.Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?
P2860
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P2860
Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.
description
1991 nî lūn-bûn
@nan
1991 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Human type VII collagen: genet ...... trophic epidermolysis bullosa.
@ast
Human type VII collagen: genet ...... trophic epidermolysis bullosa.
@en
type
label
Human type VII collagen: genet ...... trophic epidermolysis bullosa.
@ast
Human type VII collagen: genet ...... trophic epidermolysis bullosa.
@en
prefLabel
Human type VII collagen: genet ...... trophic epidermolysis bullosa.
@ast
Human type VII collagen: genet ...... trophic epidermolysis bullosa.
@en
P2093
P2860
P1476
Human type VII collagen: genet ...... trophic epidermolysis bullosa.
@en
P2093
P2860
P304
P407
P577
1991-10-01T00:00:00Z