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Article

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.

Human molecular genetics - 1 Aug 1995

Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme J F, Dubertret L, Weissenbach J

Abstract excerpt

Autosomal recessive lamellar ichthyosis (ARLI) belongs to the group of congenital disorders of cornification. It is characterized by a severe and generalized ichthyosis, and other variable cutaneous signs. The human transglutaminase 1 (TGM1) gene was recently found to be the disease-causing gene. Linkage analysis in 23 families (of which 13 were consanguineous) showed that for 10 of them, the disease was linked...

Topics

Base Sequence
Consanguinity
DNA Primers
Exons
Female
Genes, Recessive
Genetic Linkage
Humans
Ichthyosis
Infant, Newborn
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Transglutaminases

Source

Identifiers

PMID: 7581379
DOI: 10.1093/hmg/4.8.1391

Genes

TGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7581379-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.PMID 7581379Read ↗

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