Detection of heterozygous SMN1 deletions in SMA      families using a simple fluorescent multiplex PCR      method.
Saugier-Veber
P
P
Drouot
N
N
Lefebvre
S
S
Charbonnier
F
F
Vial
E
E
Munnich
A
A
Frébourg
T
T
D017362:Cyclic AMP Response Element-Binding Protein; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005453:Fluorescence; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; 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