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Article

Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.

The Journal of investigative dermatology - 1 Jun 1996

Christiano A M, Bart B J, Epstein E H, Uitto J

Abstract excerpt

Bart's syndrome was initially described as a genodermatosis characterized by congenital localized absence of the skin, together with blistering and nail abnormalities. Recent analysis of Bart's original kindred demonstrated ultrastructural abnormalities in the anchoring fibrils and linkage of the inheritance of the disease to the region of chromosome 3 near the type VII collagen gene (COL7A1). We have performed...

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Share to Amino Acid Sequence
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Share to Epidermolysis Bullosa Dystrophica

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8752681
DOI: 10.1111/1523-1747.ep12349293

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.PMID 8752681Read ↗

Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.Semantic proximity Read ↗

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.Semantic proximity Read ↗

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).Semantic proximity Read ↗

Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.Semantic proximity Read ↗

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.Semantic proximity Read ↗

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.Semantic proximity Read ↗

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.Semantic proximity Read ↗

Bart's syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1.Semantic proximity Read ↗

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Semantic proximity Read ↗

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