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Article

Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1.

Human molecular genetics - 1 Aug 1994

Gedde-Dahl T, Dupuy B M, Jonassen R, Winberg J O, Anton-Lamprecht I, Olaisen B

Abstract excerpt

Junctional epidermolysis bullosa inversa is an autosomal recessive blistering skin disease with an ultrastructural hemidesmosome defect similar to that of the Herlitz disease, yet with a non-lethal and different course of the disease. Its delineation is based on five geographically associated Nor...

Topics

Alleles
Base Sequence
Chromosomes, Human, Pair 1
Epidermolysis Bullosa, Junctional
Female
Genetic Linkage
Humans
Introns
Male
Molecular Sequence Data
Pedigree
Polymorphism, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7987320
DOI: 10.1093/hmg/3.8.1387

Genes

LAMC1
LAMB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7987320-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1.PMID 7987320Read ↗

A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep.Semantic proximity Read ↗

Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.Semantic proximity Read ↗

A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds.Semantic proximity Read ↗

Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.Semantic proximity Read ↗

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).Semantic proximity Read ↗

Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.Semantic proximity Read ↗

Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.Semantic proximity Read ↗

Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.Semantic proximity Read ↗

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.Semantic proximity Read ↗

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.Semantic proximity Read ↗

Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa.Semantic proximity Read ↗

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.Semantic proximity Read ↗

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