Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.
Shin
Y S
YS
University Children's Hospital, Munich, Germany.
Koch
H G
HG
Köhler
M
M
Hoffmann
G
G
Patsoura
A
A
Podskarbi
T
T
D004912:Erythrocytes / Q000201:enzymology*; D005693:Galactosemias / Q000201:enzymology* / Q000235:genetics; D014644:Genetic Variation; D005858:Germany; D006801:Humans; D009154:Mutation; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics*
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase