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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...

Topics

Base Sequence
DNA Primers
Epidermolysis Bullosa, Junctional
Female
Homozygote
Humans
Infant, Newborn
Laminin
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

RNA, Messenger

Source

Identifiers

PMID: 7698759
DOI: 10.1006/geno.1994.1627

Genes

LAMB3
CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7698759-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 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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