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Article

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.

European journal of human genetics : EJHG - 1 Jan 2000

Pigg M, Gedde-Dahl T, Cox D, Hausser I, Anton-Lamprecht I, Dahl N

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a clinically heterogeneous disorder of keratinisation. It was recently shown that mutations in the transglutaminase 1 (TGM1) gene may be associated with the clinical subtypes lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform eryt...

Topics

Alleles
Base Sequence
DNA Primers
DNA, Complementary
Dermatitis, Exfoliative
Founder Effect
Genotype
Haplotypes
Humans
Ichthyosis, Lamellar
Microscopy, Electron
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Norway

Skin

Transglutaminases

Source

Identifiers

PMID: 9887377
DOI: 10.1038/sj.ejhg.5200224

Genes

TGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9887377-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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