Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX)

J Med Genet. 2002 Sep;39(9):e58. doi: 10.1136/jmg.39.9.e58.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5' Flanking Region / genetics*
  • Alleles*
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Cohort Studies
  • Connexins / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Gap Junction beta-1 Protein
  • Genetic Linkage
  • Genetic Variation
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Promoter Regions, Genetic / genetics
  • X Chromosome / genetics*

Substances

  • Connexins
  • DNA