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Article

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.

European journal of human genetics : EJHG - 1 Sept 1999

Laiho E, Niemi K M, Ignatius J, Kere J, Palotie A, Saarialho-Kere U

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited disorders of cornification in which progress has recently been made in the identification of pathogenic mechanisms causing the disease. Transglutaminase 1 (TGM1) has been found as a defective gene in a large fraction of patients with lamellar ichthyosis (LI), a severe inherited scaling disorder of the skin. We have previously performed...

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Share to Ichthyosiform Erythroderma, Congenital
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Source

Identifiers

PMID: 10482949
DOI: 10.1038/sj.ejhg.5200353

Genes

TGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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