- Tytuł:
- Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR.
- Autorzy:
- Źródło:
- BMC neurology [BMC Neurol] 2024 Mar 11; Vol. 24 (1), pp. 93. Date of Electronic Publication: 2024 Mar 11.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Multiplex
Polymerase Chain Reaction *
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Humans ; DNA Copy Number Variations/genetics ; Workflow ; Motor Neurons ; Exons/genetics ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe