SMN dosage analysis and risk assessment for spinal muscular atrophy

Am J Hum Genet. 2002 Jun;70(6):1596-8; author reply 1598-9. doi: 10.1086/340789.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Age of Onset
  • Bayes Theorem
  • Child
  • Cyclic AMP Response Element-Binding Protein
  • DNA Primers / genetics
  • Exons / genetics
  • Gene Dosage*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Genotype
  • Humans
  • Infant, Newborn
  • Introns / genetics
  • Muscular Atrophy, Spinal / classification
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / drug therapy
  • Muscular Atrophy, Spinal / genetics*
  • Nerve Tissue Proteins / genetics*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single Nucleotide / genetics
  • Probability
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • Sensitivity and Specificity

Substances

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

Associated data

  • OMIM/MIM253300
  • OMIM/MIM253400
  • OMIM/MIM253550
  • OMIM/MIM600354
  • OMIM/MIM601627