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 fo...
Topics
- Alleles
- Antigens, Tumor-Associated, Carbohydrate
- Azacitidine
- Butyrates
- Butyric Acid
- Carbohydrate Sequence
- Clone Cells
- Enzyme Repression
- Galactosyltransferases
- Hematologic Diseases
- Humans
- Kinetics
- Molecular Sequence Data
- Syndrome
- T-Lymphocytes
- Tumor Cells, Cultured