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Article

Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.

The British journal of dermatology - 1 Feb 2001

Akiyama M, Takizawa Y, Kokaji T, Shimizu H

Abstract excerpt

We report novel mutations in the transglutaminase (TGase) 1 gene (TGM1) in a Japanese boy with non-bullous congenital ichthyosiform erythroderma (NBCIE). The patient showed fine, grey or light-brown scales on an erythematous skin. An in situ TGase activity assay detected markedly reduced TGase activity in the patient's epidermis. Electron microscopy revealed incomplete thickening of the cornified cell envelope...

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Share to Transglutaminases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ichthyosiform Erythroderma, Congenital

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Source

Identifiers

PMID: 11251583
DOI: 10.1046/j.1365-2133.2001.04037.x

Genes

TGM1

Variants

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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