A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease

Hum Mutat. 1997;9(5):475-6. doi: 10.1002/(SICI)1098-1004(1997)9:5<475::AID-HUMU19>3.0.CO;2-#.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diffuse Cerebral Sclerosis of Schilder / diagnostic imaging
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / physiopathology
  • Electroencephalography
  • Exons*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Myelin Proteolipid Protein / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Radiography

Substances

  • Myelin Proteolipid Protein