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Article

Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.

Biochemical and biophysical research communications - 24 Feb 1998

Posteraro P, Sorvillo S, Gagnoux-Palacios L, Angelo C, Paradisi M, Meneguzzi G, Castiglia D, Zambruno G

Abstract excerpt

Laminin-5 is the major adhesion ligand of epithelial cells. Mutations in the genes encoding laminin-5 cause junctional epidermolysis bullosa (JEB), a clinically and genetically heterogeneous group of recessively inherited blistering disease of skin and mucous membranes. In this report, we describe a patient with a non-lethal variant of JEB who is a compound heterozygous for mutations affecting the LAMB3 gene. The...

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Source

Identifiers

PMID: 9501007
DOI: 10.1006/bbrc.1998.8180

Genes

LAMB3

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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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Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.PMID 9501007Read ↗

A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa.Semantic proximity Read ↗

Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene.Semantic proximity Read ↗

Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.Semantic proximity Read ↗

Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.Semantic proximity Read ↗

Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa.Semantic proximity Read ↗

Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.Semantic proximity Read ↗

A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosaSemantic proximity Read ↗

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