Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.

Eitemau Tebyg

• Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
  gan: Gencic, S, et al.
  Cyhoeddwyd: (1989)
• Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease
  gan: Simons, Mikael, et al.
  Cyhoeddwyd: (2002)
• Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease
  gan: Elitt, Matthew S., et al.
  Cyhoeddwyd: (2020)
• Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.
  gan: Trofatter, J A, et al.
  Cyhoeddwyd: (1989)
• Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
  gan: Strautnieks, S, et al.
  Cyhoeddwyd: (1992)