Pelizaeus-Merzbacher disease: a novel mutation in the 5'-untranslated region of the proteolipid protein gene

Hum Mutat. 1996;7(4):355-7. doi: 10.1002/(SICI)1098-1004(1996)7:4<355::AID-HUMU10>3.0.CO;2-1.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Deoxyribonucleases, Type II Site-Specific
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Humans
  • Male
  • Mutation*
  • Myelin Proteolipid Protein / genetics*
  • Polymerase Chain Reaction

Substances

  • Myelin Proteolipid Protein
  • CAGCTG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific