title: Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.
authors.forename: Retno
authors.initials: R
authors.lastname: Sutomo
authors.forename: Tomoko
authors.initials: T
authors.lastname: Akutsu
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Takeshima
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio
authors.forename: Ahmad Hamim
authors.initials: AH
authors.lastname: Sadewa
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Harada
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D017362:Cyclic AMP Response Element-Binding Protein; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein; D004247:DNA