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Article

Persistent repression of a functional allele can be responsible for galactosyltransferase deficiency in Tn syndrome.

The Journal of clinical investigation - 1 May 1993

Thurnher M, Rusconi S, Berger E G

Abstract excerpt

A human hematopoietic disorder designated as Tn syndrome or permanent mixed-field polyagglutinability has been ascribed to a stem cell mutation leading to a specific deficiency of UDP-Gal:GalNAc alpha 1-O-Ser/Thr beta 1-3 galactosyltransferase (beta 3 Gal-T) activity in affected cells. To test for the possibility that an allele of the beta 3Gal-T gene might be repressed instead of mutated, we have investigated...

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Identifiers

PMID: 7683697
DOI: 10.1172/JCI116434
PMCID: PMC288210

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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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