A novel point mutation in an acceptor splice site of intron...

Human Genetics 1998 / 01 Vol. 102; Iss. 1

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

M. Okubo, Asako Horinishi, Norimasa Nakamura, Yoshiko Aoyama, Masaji Hashimoto, Yuzo Endo, Toshio Murase
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Volume:
102
Language:
english
Pages:
5
DOI:
10.1007/s004390050646
Date:
January, 1998
File:
PDF, 59 KB
english, 1998
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