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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...

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Source

Identifiers

PMID: 7581379
DOI: 10.1093/hmg/4.8.1391

Genes

TGM1

Provenance

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.

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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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Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Semantic proximity Read ↗

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New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis.Semantic proximity Read ↗

Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.Semantic proximity Read ↗

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