Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase

J Inherit Metab Dis. 1999 May;22(3):327-9. doi: 10.1023/a:1005516523196.

Authors

Y S Shin¹, J Zschocke, A M Das, T Podskarbi

Affiliation

¹ University Children's Hospital of Munich, Germany. shin@kk-i.med.uni-muenchen.de

PMID: 10384398
DOI: 10.1023/a:1005516523196

No abstract available

MeSH terms

Alleles
Galactosemias / classification
Galactosemias / enzymology*
Galactosemias / genetics
Gene Frequency
Genetic Variation*
Humans
Mutagenesis
UTP-Hexose-1-Phosphate Uridylyltransferase / deficiency
UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*
UTP-Hexose-1-Phosphate Uridylyltransferase / metabolism

Substances

UTP-Hexose-1-Phosphate Uridylyltransferase