SMN dosage analysis and risk assessment for spinal muscular atrophy.
Ogino
Shuji
S
Wilson
Robert B
RB
D017668:Age of Onset; D001499:Bayes Theorem; D002648:Child; D017362:Cyclic AMP Response Element-Binding Protein; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods* / Q000592:standards; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011336:Probability; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D012680:Sensitivity and Specificity
D017362:Cyclic AMP Response Element-Binding Protein; D017931:DNA Primers; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins