Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
Maceratesi
P
P
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.
Sangiuolo
F
F
Novelli
G
G
Ninfali
P
P
Magnani
M
M
Reichardt
J K
JK
Dallapiccola
B
B
D004912:Erythrocytes / Q000201:enzymology; D016368:Frameshift Mutation; D005693:Galactosemias / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007558:Italy; D017354:Point Mutation; D011110:Polymorphism, Genetic; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics*
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase