Molecular analysis of FMR1 alleles for fragile X syndrome diagnosis and patient stratification

Expert Rev Mol Diagn. 2020 Apr;20(4):363-365. doi: 10.1080/14737159.2020.1729744. Epub 2020 Feb 18.
No abstract available

Keywords: CGG repeat; FMR1; FMRP; disease prognosis; fragile X syndrome; mosaic; patient stratification.

Publication types

  • Editorial
  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Alleles*
  • Female
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Mental Retardation Protein / metabolism
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / epidemiology
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / metabolism
  • Gene Expression Regulation
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Male
  • Mutation*
  • RNA, Messenger / genetics

Substances

  • FMR1 protein, human
  • RNA, Messenger
  • Fragile X Mental Retardation Protein