Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.

Authors :: Hadjigeorgiou GM
Comi GP
Bordoni A
Shen J
Chen YT
Salani S
Toscano A
Fortunato F
Lucchiari S
Bresolin N
Rodolico C
Piscaglia MG
Franceschina L
Papadimitriou A
Scarlato G
Source :: Journal of inherited metabolic disease [J Inherit Metab Dis] 1999 Aug; Vol. 22 (6), pp. 762-3.
Publication Year :: 1999

Subjects :: Adult
DNA Mutational Analysis
Female
Glycogen Debranching Enzyme System metabolism
Humans
RNA, Messenger genetics
Glycogen Debranching Enzyme System genetics
Glycogen Storage Disease Type III enzymology
Glycogen Storage Disease Type III genetics
Mutation
RNA Splicing

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