Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.
Sutomo
Retno
R
Akutsu
Tomoko
T
Takeshima
Yasuhiro
Y
Nishio
Hisahide
H
Sadewa
Ahmad Hamim
AH
Harada
Yosuke
Y
Matsuo
Masafumi
M
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
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