A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease

Am J Med Genet A. 2006 May 1;140(9):1021-5. doi: 10.1002/ajmg.a.31242.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Cell Line, Tumor
  • Charcot-Marie-Tooth Disease / genetics*
  • Fluorescent Antibody Technique, Indirect
  • Gene Duplication
  • Humans
  • Male
  • Microscopy, Fluorescence
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Mutation*
  • Neurofilament Proteins / genetics*
  • Neurofilament Proteins / metabolism
  • Sequence Homology, Nucleic Acid
  • Transfection

Substances

  • Neurofilament Proteins
  • neurofilament protein L