Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations

Hum Mutat. 2004 Apr;23(4):392-3. doi: 10.1002/humu.20013.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Cyclic AMP Response Element-Binding Protein
  • Humans
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • Survival of Motor Neuron 1 Protein
  • Terminology as Topic*

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