A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b

Hum Mutat. 2000 Jul;16(1):94. doi: 10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q.
No abstract available

MeSH terms

  • Amino Acid Substitution / genetics*
  • Antiporters
  • Glycogen Storage Disease Type I / enzymology*
  • Glycogen Storage Disease Type I / genetics*
  • Hong Kong
  • Humans
  • Leucine / genetics
  • Monosaccharide Transport Proteins
  • Mutation, Missense / genetics*
  • Phosphotransferases / genetics*
  • Proline / genetics

Substances

  • Antiporters
  • Monosaccharide Transport Proteins
  • SLC37A4 protein, human
  • glucose 6-phosphate(transporter)
  • Proline
  • Phosphotransferases
  • Leucine