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 (Q74268813)
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scientific article published on 01 January 1998
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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 |
scientific article published on 01 January 1998 |
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