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

Novel and recurrent COL7A1 mutation in a Polish population.

European journal of dermatology : EJD - 1 Jan 2000

Wertheim-Tysarowska Katarzyna, Sobczyńska-Tomaszewska Agnieszka, Kowalewski Cezary, Kutkowska-Kaźmierczak Anna, Woźniak Katarzyna, Niepokój Katarzyna, Klausegger Alfred, Sypniewska-Jutkiewicz Joanna, Stępień Anna, Bal Jerzy

Abstract excerpt

Dystrophic Epidermolysis Bullosa (DEB) is a rare bullous genodermatosis caused by mutations in COL7A1, which encodes collagen type VII, the main component of anchoring fibrilis. DEB is inherited in an autosomal recessive and dominant manner, depending on the mutation type and localization. The aim of this study was to update the spectrum and frequency of COL7A1 mutations in a cohort of 42 Polish DEB patients....

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 DNA Mutational Analysis

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

Share to Epidermolysis Bullosa Dystrophica

Share to Mutation

Share to Poland

Source

Identifiers

PMID: 22266148
DOI: 10.1684/ejd.2011.1583

Variants

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

Novel and recurrent COL7A1 mutation in a Polish population.PMID 22266148Read ↗

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 ↗

The COL7A1 mutation database.Semantic proximity Read ↗

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.Semantic proximity Read ↗

Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.Semantic proximity Read ↗

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.Semantic proximity Read ↗

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

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

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

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