High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.

Samankaltaisia teoksia

• Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.
  Tekijä: Lopes, J., et al.
  Julkaistu: (1996)
• Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
  Tekijä: Brice, A, et al.
  Julkaistu: (1992)
• The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
  Tekijä: Meggouh, F, et al.
  Julkaistu: (1998)
• P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice
  Tekijä: Fratta, Pietro, et al.
  Julkaistu: (2011)
• L-MPZ, a Novel Isoform of Myelin P0, Is Produced by Stop Codon Readthrough
  Tekijä: Yamaguchi, Yoshihide, et al.
  Julkaistu: (2012)