Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C

Hum Genet. 2008 Oct;124(3):320.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution*
  • Charcot-Marie-Tooth Disease / genetics*
  • Child
  • Codon / genetics*
  • DNA Restriction Enzymes / metabolism
  • Exons
  • Female
  • Genes, Recessive
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Mutation, Missense*
  • Point Mutation
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*

Substances

  • Codon
  • Intracellular Signaling Peptides and Proteins
  • Proteins
  • SH3TC2 protein, human
  • DNA Restriction Enzymes