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Article

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.

American journal of human genetics - 1 Dec 1999

Floeth M, Bruckner-Tuderman L

Abstract excerpt

Junctional epidermolysis bullosa (JEB), a genetically heterogeneous group of blistering skin diseases, can be caused by mutations in the genes encoding laminin 5 or collagen XVII, which are components of the hemidesmosome-anchoring filament complex in the skin. Here, a family with severe nonlethal JEB and with mutations in genes for both proteins was identified. The index patient was compound heterozygous for the...

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

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Source

Open in PubMed Open full text

Identifiers

PMID: 10577906
DOI: 10.1086/302672
PMCID: PMC1288363

Genes

LAMB3

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.

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Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.PMID 10577906Read ↗

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