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Article

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.

Genomics - 15 Nov 1994

Pulkkinen L, Christiano A M, Gerecke D, Wagman D W, Burgeson R E, Pittelkow M R, Uitto J

Abstract excerpt

Herlitz junctional epidermolysis bullosa (H-JEB) is a severe autosomal recessive disorder characterized by blister formation within the dermal-epidermal basement membrane. Based on immunofluorescence analysis recognizing laminin 5 epitopes (previously known as nicein/kalinin), the genes for this lamina lucida protein have been proposed as candidate genes in H-JEB. In this study, we examined the gene encoding the...

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Source

Identifiers

PMID: 7698759
DOI: 10.1006/geno.1994.1627

Genes

LAMB3
CGA

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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A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.PMID 7698759Read ↗

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.Semantic proximity Read ↗

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.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 ↗

IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa.Semantic proximity Read ↗

Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.Semantic proximity Read ↗

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.Semantic proximity Read ↗

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

A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.Semantic proximity Read ↗

In vivo restoration of laminin 5 β3 expression and function in junctional epidermolysis bullosaSemantic proximity Read ↗

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.Semantic proximity Read ↗

Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.Semantic proximity Read ↗

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