Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

Hum Mutat. 1998;11(1):45-50. doi: 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics
  • Arginine / genetics
  • CpG Islands*
  • Cysteine / genetics
  • Female
  • Genotype
  • Histidine / genetics
  • Humans
  • Male
  • Malignant Hyperthermia / genetics*
  • Malignant Hyperthermia / metabolism*
  • Mutation*
  • Pedigree
  • Phenotype
  • Ryanodine Receptor Calcium Release Channel / genetics*

Substances

  • Ryanodine Receptor Calcium Release Channel
  • Histidine
  • Arginine
  • Cysteine