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Article

New mutations in C1GALT1C1 in individuals with Tn positive phenotype.

British journal of haematology - 1 Aug 2008

Crew Vanja Karamatic, Singleton Belinda K, Green Carole, Parsons Stephen F, Daniels Geoff, Anstee David J

Abstract excerpt

Tn polyagglutination results from inactivating mutations in C1GALT1C1, an X-borne gene encoding a core 1 beta3-galactosyltransferase-specific molecular chaperone (cosmc) required for the functioning of T-synthase (beta 1,3-galactosyltransferase), a glycosyltransferase essential for the correct biosynthesis of O-glycans. This study found novel inactivating mutations (Glu152Lys, Ser193Pro and Met1Ile) in the coding...

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Topics

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Share to Antigens, Tumor-Associated, Carbohydrate
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18537974
DOI: 10.1111/j.1365-2141.2008.07215.x

Genes

AQP3
FABP5
PLXND1

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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