Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.

doi:10.1038/ng0394-293

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Article

Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.

Nature genetics - 1 Mar 1994

Pulkkinen L, Christiano A M, Airenne T, Haakana H, Tryggvason K, Uitto J

Abstract excerpt

Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation within the dermal-epidermal basement membrane. Genes for the lamina lucida protein, kalinin/laminin 5, have been proposed as candidates for some forms of JEB, based on immunofluorescence analysis recognizing kalinin epitopes. We studied the cDNA of laminin gamma 2 chain for mutations in JEB using...

Topics

Base Sequence
Cell Adhesion Molecules
DNA Primers
DNA, Complementary
Epidermolysis Bullosa, Junctional
Exons
Female
Genes, Recessive
Homozygote
Humans
Laminin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Molecular Structure

Mutation

Pedigree

Point Mutation

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 8012393
DOI: 10.1038/ng0394-293

Genes

LAMC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8012393-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.PMID 8012393Read ↗

Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation.Semantic proximity Read ↗

Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.Semantic proximity Read ↗

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

Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes.Semantic proximity Read ↗

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

Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.Semantic proximity Read ↗

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.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 ↗

Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.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 ↗

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

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