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Article

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Human mutation - 1 Apr 2009

Herman Matthew L, Farasat Sharifeh, Steinbach Peter J, Wei Ming-Hui, Toure Ousmane, Fleckman Philip, Blake Patrick, Bale Sherri J, Toro Jorge R

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the United States. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. Structurally defective or attenuated cornified cell envelop have been shown in epidermal scales and appendages of ARCI patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ichthyosiform Erythroderma, Congenital

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Share to Polymorphism, Genetic

Share to Protein Structure, Tertiary

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Source

Open in PubMed Open full text

Identifiers

PMID: 19241467
DOI: 10.1002/humu.20952
PMCID: PMC3243309

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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