A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease

Neurology. 1995 Feb;45(2):394-5. doi: 10.1212/wnl.45.2.394.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Asparagine
  • Base Sequence
  • Child, Preschool
  • DNA Primers
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Exons
  • Female
  • Humans
  • Lysine
  • Male
  • Molecular Sequence Data
  • Myelin Proteins / genetics*
  • Myelin Proteolipid Protein
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic

Substances

  • DNA Primers
  • Myelin Proteins
  • Myelin Proteolipid Protein
  • Asparagine
  • Lysine