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Article

The molecular basis of dystrophic epidermolysis bullosa in Mexico.

International journal of dermatology - 1 Jun 2000

Salas-Alanis J C, Amaya-Guerra M, McGrath J A

Abstract excerpt

BACKGROUND: Type VII collagen gene (COL7A1) mutations are the cause of dystrophic epidermolysis bullosa (DEB), but most mutations are specific to individual families, and there are limited data on the nature of COL7A1 mutations in certain ethnic populations. OBJECTIVE: To determine the molecular basis of DEB in Hispanic Mexican patients. METHODS: Patients were recruited through a newly established support group,...

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Source

Identifiers

PMID: 10944088
DOI: 10.1046/j.1365-4362.2000.00975.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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The molecular basis of dystrophic epidermolysis bullosa in Mexico.PMID 10944088Read ↗

[2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families].Semantic proximity Read ↗

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.Semantic proximity Read ↗

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.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 ↗

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

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.Semantic proximity Read ↗

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

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.Semantic proximity Read ↗

Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.Semantic proximity Read ↗

Mutation analysis and characterization of COL7A1 mutations in 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 ↗

Phenotypic Characteristics of a Patient Cohort With Recessive Dystrophic Epidermolysis Bullosa and the Pathogenic Variant c.7485+5G>A in Intron 98 of COL7A1.Semantic proximity Read ↗

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