Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

J Med Genet. 2001 Apr;38(4):240-3. doi: 10.1136/jmg.38.4.240.
No abstract available

Publication types

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

MeSH terms

  • Cyclic AMP Response Element-Binding Protein
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fluorescence
  • Gene Deletion*
  • Genetic Carrier Screening / methods*
  • Heterozygote
  • Humans
  • Male
  • Muscular Atrophy, Spinal / genetics*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Polymerase Chain Reaction / methods
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • Survival of Motor Neuron 1 Protein

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • SMN1 protein, human
  • Survival of Motor Neuron 1 Protein
  • DNA