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.

Published

Journal Article (Letter)

Full Text

Duke Authors

Cited Authors

  • Chen, YT

Published Date

  • January 1999

Published In

Volume / Issue

  • 104 / 1

Start / End Page

  • 111 - 112

PubMed ID

  • 10071203

Pubmed Central ID

  • 10071203

International Standard Serial Number (ISSN)

  • 0340-6717

Digital Object Identifier (DOI)

  • 10.1007/s004390050920

Language

  • eng

Conference Location

  • Germany