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Article

Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients.

Clinical and experimental dermatology - 1 Jul 2005

Kawashima J, Akiyama M, Takizawa Y, Takahashi S, Matsuo I, Shimizu H

Abstract excerpt

Causative gene defects have not been demonstrated in the majority of nonbullous congenital ichthyosiform erythroderma (NBCIE) cases. The purpose of this study was to further elucidate the pathogenesis of NBCIE. Immunohistochemical and ultrastructural observations, transglutaminase activity assays and sequencing of TGM1 were performed in five patients from four NBCIE families. Transglutaminase 1 (TGase 1),...

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Source

Identifiers

PMID: 15953088
DOI: 10.1111/j.1365-2230.2005.01818.x

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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