Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification

J Med Genet. 2001 Sep;38(9):624-9. doi: 10.1136/jmg.38.9.624.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Base Sequence
  • Blotting, Western
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics
  • Gene Deletion*
  • Genetic Testing
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Nerve Tissue Proteins / analysis
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics
  • Pedigree
  • Polymerase Chain Reaction
  • RNA-Binding Proteins*
  • Sequence Deletion / genetics*
  • Trans-Activators / genetics
  • Trinucleotide Repeats / genetics

Substances

  • AFF2 protein, human
  • FMR1 protein, human
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • RNA-Binding Proteins
  • Trans-Activators
  • Fragile X Mental Retardation Protein