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.
University Children's Hospital, Munich, Germany.
Y S
YS
Shin
H G
HG
Koch
M
M
Köhler
G
G
Hoffmann
A
A
Patsoura
T
T
Podskarbi
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