A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease

Clin Genet. 1998 Sep;54(3):248-9. doi: 10.1111/j.1399-0004.1998.tb04295.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Exons
  • Humans
  • Infant
  • Male
  • Myelin Proteolipid Protein / genetics*
  • Point Mutation*

Substances

  • Myelin Proteolipid Protein