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Article

Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.

The Journal of investigative dermatology - 1 Sept 2000

Nakano A, Pfendner E, Hashimoto I, Uitto J

Abstract excerpt

Herlitz junctional epidermolysis bullosa is a heritable bullous disease caused by mutations found primarily in the b3 chain of laminin 5 (LAMB3). In this study, we examined the LAMB3 gene for mutations in 22 Herlitz junctional epidermolysis bullosa families, and identified 15 distinct mutations, eight of them previously unreported, bringing the total number of distinct Herlitz junctional epidermolysis bullosa...

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

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Source

Identifiers

PMID: 11023379
DOI: 10.1046/j.1523-1747.2000.00086.x

Genes

LAMB3

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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