title: De novo deletions in spinal muscular atrophy: implications for genetic counselling.
authors.forename: V
authors.initials: V
authors.lastname: Raclin
authors.forename: P S
authors.initials: PS
authors.lastname: Veber
authors.forename: L
authors.initials: L
authors.lastname: Bürglen
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Melki
mesh_terms: D017362:Cyclic AMP Response Element-Binding Protein; D004247:DNA / Q000032:analysis; D017353:Gene Deletion; D005817:Genetic Counseling; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D009679:Nuclear Family; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D004247:DNA