Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
Hadjigeorgiou
G M
GM
Centro Dino Ferrari, Università degli Studi di Milano, Italy.
Comi
G P
GP
Bordoni
A
A
Shen
J
J
Chen
Y T
YT
Salani
S
S
Toscano
A
A
Fortunato
F
F
Lucchiari
S
S
Bresolin
N
N
Rodolico
C
C
Piscaglia
M G
MG
Franceschina
L
L
Papadimitriou
A
A
Scarlato
G
G
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000235:genetics* / Q000378:metabolism; D006010:Glycogen Storage Disease Type III / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics
D006004:Glycogen Debranching Enzyme System; D012333:RNA, Messenger; C020569:4 alpha-glucanotransferase