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

Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.

The British journal of dermatology - 1 Jun 2011

Yuen W Y, Pas H H, Sinke R J, Jonkman M F

Abstract excerpt

BACKGROUND: Junctional epidermolysis bullosa of late onset (JEB-lo) is a rare disease characterized by blistering of primarily the hands and feet starting in childhood. The pathogenesis remains unclear. OBJECTIVES: To clarify the pathogenesis of JEB-lo. METHODS: Two patients with JEB-lo, a brother and a sister, were examined using electron microscopy (EM), immunofluorescence (IF) antigen mapping and molecular...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Autoantigens
Share to Collagen Type XVII

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

Share to Epidermolysis Bullosa, Junctional

Share to Microscopy, Electron

Share to Microscopy, Fluorescence

Share to Non-Fibrillar Collagens

Share to Siblings

Source

Identifiers

PMID: 21466533
DOI: 10.1111/j.1365-2133.2011.10359.x

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

Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.PMID 21466533Read ↗

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.Semantic proximity Read ↗

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.Semantic proximity Read ↗

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen.Semantic proximity Read ↗

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision MedicineSemantic proximity Read ↗

Autosomal dominant junctional epidermolysis bullosa.Semantic proximity Read ↗

Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.Semantic proximity Read ↗

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.Semantic proximity Read ↗

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

Type VII Collagen Disorders Simplified.Semantic proximity Read ↗

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.Semantic proximity Read ↗

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

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