FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics

J Med Genet. 2003 Jul;40(7):535-9. doi: 10.1136/jmg.40.7.535.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Blotting, Southern
  • Child
  • Child, Preschool
  • DNA / genetics
  • DNA / metabolism
  • DNA Methylation*
  • Family Health
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / metabolism
  • Fragile X Syndrome / psychology
  • Hair / metabolism*
  • Humans
  • Intelligence
  • Lymphocytes / metabolism*
  • Male
  • Mutation
  • Nerve Tissue Proteins / blood
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Pedigree
  • RNA-Binding Proteins*

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein
  • DNA