Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.

Podobne zapisy

• Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
  od: Hudson, L D, i wsp.
  Wydane: (1989)
• Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
  od: Doll, R, i wsp.
  Wydane: (1992)
• Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
  od: Raskind, W H, i wsp.
  Wydane: (1991)
• Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
  od: Pham-Dinh, D, i wsp.
  Wydane: (1991)
• Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease
  od: Simons, Mikael, i wsp.
  Wydane: (2002)