Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.
Ninfali
P
P
Istituto di Chimica Biologica G. Fornaini, Università di Urbino, Italy.
Bresolin
N
N
Dallapiccola
B
B
Novelli
G
G
D000483:Alleles; D002648:Child; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology*; D009154:Mutation; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000235:genetics
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase