De novo deletions in spinal muscular atrophy: implications for genetic counselling

J Med Genet. 1997 Jan;34(1):86-7. doi: 10.1136/jmg.34.1.86.
No abstract available

Publication types

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

MeSH terms

  • Cyclic AMP Response Element-Binding Protein
  • DNA / analysis
  • Gene Deletion*
  • Genetic Counseling*
  • Genetic Markers
  • Humans
  • Male
  • Muscular Atrophy, Spinal / genetics*
  • Nerve Tissue Proteins / genetics
  • Nuclear Family
  • Pedigree
  • Polymerase Chain Reaction
  • RNA-Binding Proteins
  • SMN Complex Proteins

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Genetic Markers
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • DNA