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

doi:10.1111/1523-1747.ep12276614

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Article

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

The Journal of investigative dermatology - 1 Jul 1997

Chavanas S, Gache Y, Tadini G, Pulkkinen L, Uitto J, Ortonne J P, Meneguzzi G

Abstract excerpt

We report a missplicing event affecting the expression of bullous pemphigoid antigen BP180 (type XVII collagen) in a patient with generalized atrophic benign epidermolysis bullosa (GABEB). The segregation of the mutated allele in the family is consistent with the pathogenic role of the mutation....

Topics

Adult
Autoantigens
Carrier Proteins
Cytoskeletal Proteins
Dystonin
Epidermolysis Bullosa Dystrophica
Female
Gene Deletion
Genetic Heterogeneity
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nerve Tissue Proteins

Non-Fibrillar Collagens

Pemphigoid, Bullous

Protein Structure, Tertiary

RNA, Messenger

Collagen Type XVII

Source

Open in PubMed

Identifiers

PMID: 9204958
DOI: 10.1111/1523-1747.ep12276614

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9204958-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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