Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay

J Med Genet. 2004 Apr;41(4):e45. doi: 10.1136/jmg.2003.012716.
No abstract available

Publication types

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

MeSH terms

  • Algorithms
  • DNA Methylation
  • DNA Mutational Analysis / methods*
  • Female
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / classification
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / genetics
  • Genotype
  • Humans
  • Male
  • Nerve Tissue Proteins / genetics*
  • Polymerase Chain Reaction / methods*
  • RNA-Binding Proteins*
  • Trinucleotide Repeat Expansion*

Substances

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