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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.

作者信息

Chen Y T

出版信息

Hum Genet. 1999 Jan;104(1):111-2. doi: 10.1007/s004390050920.

DOI:10.1007/s004390050920
PMID:10071203
Abstract
摘要

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1
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