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

Hum Genet. 1999 Jan;104(1):111-2. doi: 10.1007/s004390050920.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Adult
  • Exons*
  • Glycogen Debranching Enzyme System / genetics*
  • Glycogen Storage Disease Type III / enzymology*
  • Glycogen Storage Disease Type III / genetics*
  • Homozygote*
  • Humans
  • Introns*
  • Point Mutation / genetics*
  • RNA Splicing / genetics

Substances

  • Glycogen Debranching Enzyme System