about
Inherited epidermolysis bullosaMutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosaCloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosaCompound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionThree novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosaEpidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosaRevertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutationMultiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa.Collagen XVII (BP180) modulates keratinocyte expression of the proinflammatory chemokine, IL-8Melanocytes, melanocyte stem cells, and melanoma stem cells.Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Epidermolysis bullosa. Clinical aspects, pathology, and recent advances in research.Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332.Epidermolysis bullosa: a review.Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases.Inherited epidermolysis bullosa.Common genodermatoses.Transient anti-CD40L co-stimulation blockade prevents immune responses against human bullous pemphigoid antigen 2: implications for gene therapyJunctional epidermolysis bullosa: a mild variant in two Indian sisters.180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype.Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.Two cases of atypical melanocytic lesions in recessive dystrophic epidermolysis bullosa infants.Non-lethal junctional epidermolysis bullosa in two adult sisters.
P2860
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P2860
description
1982 nî lūn-bûn
@nan
1982 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1982 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1982年の論文
@ja
1982年論文
@yue
1982年論文
@zh-hant
1982年論文
@zh-hk
1982年論文
@zh-mo
1982年論文
@zh-tw
1982年论文
@wuu
name
Generalized atrophic benign epidermolysis bullosa.
@ast
Generalized atrophic benign epidermolysis bullosa.
@en
Generalized atrophic benign epidermolysis bullosa.
@nl
type
label
Generalized atrophic benign epidermolysis bullosa.
@ast
Generalized atrophic benign epidermolysis bullosa.
@en
Generalized atrophic benign epidermolysis bullosa.
@nl
prefLabel
Generalized atrophic benign epidermolysis bullosa.
@ast
Generalized atrophic benign epidermolysis bullosa.
@en
Generalized atrophic benign epidermolysis bullosa.
@nl
P1433
P1476
Generalized atrophic benign epidermolysis bullosa.
@en
P2093
P304
P356
10.1001/ARCHDERM.118.6.375
P577
1982-06-01T00:00:00Z