Proteolipid protein gene dosage effect in Pelizaeus–Merzbacher disease

This publication has 13 references indexed in Scilit:

• The leukodystrophies: a window to myelin
  Nature Genetics, 1993
• Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene
  New England Journal of Medicine, 1993
• Trisomy 17p associated with Charcot‐Marie‐Tooth neuropathy type 1A phenotype
  Neurology, 1992
• Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A
  Nature Genetics, 1992
• The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication
  Nature Genetics, 1992
• The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A
  Nature Genetics, 1992
• Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
  Proceedings of the National Academy of Sciences, 1991
• A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus‐merzbacher disease
  American Journal of Medical Genetics, 1991
• Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
  Proceedings of the National Academy of Sciences, 1989
• An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region
  Human Genetics, 1987