Molecular characterization of the H319Q galactosemia mutation.
Reichardt
J K
JK
Institute for Genetic Medicine, University of Southern California, School of Medicine, Los Angeles 90033.
Novelli
G
G
Dallapiccola
B
B
D000595:Amino Acid Sequence; D001483:Base Sequence; D017124:Conserved Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005693:Galactosemias / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
D004247:DNA; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase