The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

Eur J Hum Genet. 2015 May;23(5):561-3. doi: 10.1038/ejhg.2014.166. Epub 2014 Aug 13.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Genetic Variation*
  • Humans
  • Mutation
  • NAV1.9 Voltage-Gated Sodium Channel / genetics*
  • Pain Insensitivity, Congenital / diagnosis*
  • Pain Insensitivity, Congenital / genetics*
  • Phenotype*

Substances

  • NAV1.9 Voltage-Gated Sodium Channel