title: Detection of heterozygous SMN1 deletions in SMA      families using a simple fluorescent multiplex PCR      method.
authors.forename: P
authors.initials: P
authors.lastname: Saugier-Veber
authors.forename: N
authors.initials: N
authors.lastname: Drouot
authors.forename: S
authors.initials: S
authors.lastname: Lefebvre
authors.forename: F
authors.initials: F
authors.lastname: Charbonnier
authors.forename: E
authors.initials: E
authors.lastname: Vial
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: T
authors.initials: T
authors.lastname: Frébourg
mesh_terms: 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
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