Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b

Clin Chim Acta. 2006 Dec;374(1-2):147-8. doi: 10.1016/j.cca.2006.04.003. Epub 2006 Apr 18.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alternative Splicing / genetics
  • Antiporters / genetics*
  • Base Sequence
  • Glycogen Storage Disease Type I / genetics*
  • Humans
  • Italy
  • Molecular Sequence Data
  • Monosaccharide Transport Proteins / genetics*
  • Mutation*
  • Polymerase Chain Reaction

Substances

  • Antiporters
  • Monosaccharide Transport Proteins
  • SLC37A4 protein, human