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Article

A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa.

The Journal of investigative dermatology - 1 Apr 1996

Christiano A M, D'Alessio M, Paradisi M, Angelo C, Mazzanti C, Puddu P, Uitto J

Abstract excerpt

Recessive dystrophic epidermis bullosa is ultrastructurally characterized by the absence of anchoring fibrils, and genetic analyses have revealed that recessive dystrophic epidermolysis bullosa results from mutations in the type VII collagen gene (COL7A1). The mutations disclosed thus far are lar...

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Identifiers

PMID: 8618004
DOI: 10.1111/1523-1747.ep12345508

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8618004-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa.PMID 8618004Read ↗

Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Novel and recurrent COL7A1 mutation in a Polish population.Semantic proximity Read ↗

A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive 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 ↗

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.Semantic proximity Read ↗

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.Semantic proximity Read ↗

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.Semantic proximity Read ↗

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