De novo deletions in spinal muscular atrophy: implications for genetic counselling.
Raclin
V
V
Veber
P S
PS
Bürglen
L
L
Munnich
A
A
Melki
J
J
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
D017362:Cyclic AMP Response Element-Binding Protein; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D004247:DNA