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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

✍ Scribed by M. Okubo; Asako Horinishi; Norimasa Nakamura; Yoshiko Aoyama; Masaji Hashimoto; Yuzo Endo; Toshio Murase


Publisher
Springer
Year
1998
Tongue
English
Weight
59 KB
Volume
102
Category
Article
ISSN
0340-6717

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