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

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

Nature genetics - 1 Sept 1995

McGrath J A, Gatalica B, Christiano A M, Li K, Owaribe K, McMillan J R, Eady R A, Uitto J

Abstract excerpt

Junctional epidermolysis bullosa (JEB) is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction. Characteristic ultrastructural findings in JEB are abnormalities in the hemidesmosome-anchoring filament complexes. These focal attachment structures, which extend from the intracellular compartment of the basal keratinocytes to the...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Antigens, Surface

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

Share to Base Sequence

Share to DNA, Complementary

Share to DNA Mutational Analysis

Share to Heterozygote

Share to Molecular Sequence Data

Share to Phenotype

Source

Identifiers

PMID: 7550320
DOI: 10.1038/ng0995-83

Genes

LAMA3
LAMB3
LAMC2

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

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.PMID 7550320Read ↗

Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.Semantic proximity Read ↗

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

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

Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

Alterations in the microenvironment of junctional epidermolysis bullosa keratinocytes: A gene expression studySemantic proximity Read ↗

Mutation analysis and molecular genetics of epidermolysis bullosa.Semantic proximity Read ↗

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone.Semantic proximity Read ↗

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.Semantic proximity Read ↗

A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

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

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