Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

doi:10.1126/science.7824952

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Article

Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

Science (New York, N.Y.) - 27 Jan 1995

Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen S P, Ponec M, Bon A, Lautenschlager S, Schorderet D F, Hohl D

Abstract excerpt

Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was d...

Topics

Base Sequence
Cell Membrane
Cells, Cultured
Codon
Female
Gene Deletion
Genetic Linkage
Heterozygote
Homozygote
Humans
Ichthyosis, Lamellar
Introns
Keratinocytes
Male
Membrane Proteins
Molecular Sequence Data
Mutation
Pedigree

Source

Open in PubMed

Identifiers

PMID: 7824952
DOI: 10.1126/science.7824952

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7824952-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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