A Missense Mutation in RPS6KA3 (RSK2) Responsible for Non-Specific Mental Retardation

Nat Genet. 1999 May;22(1):13-4. doi: 10.1038/8719.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Female
  • Genetic Linkage
  • Humans
  • Intellectual Disability / enzymology
  • Intellectual Disability / genetics*
  • Male
  • Mutation, Missense
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Protein Kinases / genetics*
  • Protein Kinases / metabolism
  • Ribosomal Protein S6 Kinases, 90-kDa*
  • X Chromosome / genetics

Substances

  • Protein Kinases
  • Ribosomal Protein S6 Kinases, 90-kDa
  • ribosomal protein S6 kinase, 90kDa, polypeptide 3