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Article

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.

Cell death & disease - 25 Oct 2012

Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M, Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E

Abstract excerpt

Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study, we have screened 16 patients affected by LI and found six new mutations: two transition/transversion (R37G, V112A), two nonsense mutations and two putative...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23096117
DOI: 10.1038/cddis.2012.152
PMCID: PMC3481139

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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Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.PMID 23096117Read ↗

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