Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family

J Med Genet. 1992 Dec;29(12):919-20. doi: 10.1136/jmg.29.12.919.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Fragility
  • DNA / analysis
  • DNA Mutational Analysis
  • DNA Restriction Enzymes
  • Family Health
  • Fragile X Syndrome / genetics*
  • Gene Amplification
  • Genetic Variation
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Mosaicism*
  • Mutation
  • Pedigree
  • Repetitive Sequences, Nucleic Acid*

Substances

  • DNA
  • DNA Restriction Enzymes