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Article

Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis.

Journal of dermatological science - 1 Nov 2000

Yotsumoto S, Akiyama M, Yoneda K, Fukushige T, Kobayashi K, Saheki T, Kanzaki T

Abstract excerpt

We described a Japanese female with lamellar ichthyosis whose transglutaminase 1 gene (TGM1 gene) was mutated. DNA sequence analysis revealed that the patient had a homozygous mutation, i.e. a point mutation from G to A at nucleotide 1494 resulting in the substitution of glycine for arginine at codon 143. Her mother was heterozygous for this mutation. In situ transglutaminase assay in the patient's skin showed...

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Source

Identifiers

PMID: 11064247
DOI: 10.1016/s0923-1811(00)00087-6

Genes

TGM1

Variants

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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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Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis.PMID 11064247Read ↗

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