(Q74268813)
Statements
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb (English)
M Okubo
A Horinishi
N Nakamura
Y Aoyama
M Hashimoto
Y Endo