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

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Experimental dermatology - 1 Jul 2008

Dang Ningning, Murrell Dédée F

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (COL7A1). To date, 324 pathogenic mutations have been detected within COL7A1 in different variants of DEB; many mutations are clustered in exon 73 (10.74%) which is close to the 39 amino acid interruption region. Dominant...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Collagen Type VII
Share to Epidermolysis Bullosa Dystrophica

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

Share to Genetic Therapy

Share to Glycine

Share to Inheritance Patterns

Source

Identifiers

PMID: 18558993
DOI: 10.1111/j.1600-0625.2008.00723.x

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.PMID 18558993Read ↗

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

Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.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 ↗

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

Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result 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 ↗

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

The COL7A1 mutation database.Semantic proximity Read ↗

Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.Semantic proximity Read ↗

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

A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene.Semantic proximity Read ↗

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