Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

Hum Mutat. 1996;8(4):369-72. doi: 10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.0.CO;2-0.

Authors

P Maceratesi¹, F Sangiuolo, G Novelli, P Ninfali, M Magnani, J K Reichardt, B Dallapiccola

Affiliation

¹ Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.

PMID: 8956044
DOI: 10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.0.CO;2-0

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Erythrocytes / enzymology
Frameshift Mutation*
Galactosemias / enzymology
Galactosemias / genetics*
Humans
Italy
Point Mutation*
Polymorphism, Genetic*
UTP-Hexose-1-Phosphate Uridylyltransferase / deficiency
UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*

Substances

UTP-Hexose-1-Phosphate Uridylyltransferase