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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...

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Identifiers

PMID: 8012393
DOI: 10.1038/ng0394-293

Genes

LAMC2

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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.

Related research

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Research trail→

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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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