Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Gaceta medica de Mexico - 1 Jan 2000

Salas-Alanis Julio César, McGrath John A

Abstract excerpt

BACKGROUND: Type VII collagen gene (COL 7 Al) mutations are the cause of dystrophic epidermolysis bullosa (DEB), but most mutations are specific to individual families and there is limited data on the nature of COL 7 Al mutations in certain ethnic populations. OBJECTIVE: To determine the molecular basis of DEB in Mexican patients and describe the most frequent mutation among this ethnic population. METHODS: Most...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Collagen Type VII
Share to Epidermolysis Bullosa Dystrophica

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mexico

Share to Mutation

Source

Identifiers

PMID: 16548289

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families].PMID 16548289Read ↗

The molecular basis of dystrophic epidermolysis bullosa in Mexico.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 ↗

Novel and recurrent COL7A1 mutation in a Polish population.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 ↗

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

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

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.Semantic proximity Read ↗

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.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 ↗

Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.