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Fig. 3 | BMC Neurology

Fig. 3

From: 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

Fig. 3

Third-generation sequencing (TGS) result of cases F1-II.1 and F2-II.1. a The IGV of TGS result of cases F1-II.1, F2-II.1, and the control obtained one copy of SMN1. A 7.3 kb region without any SMN1 reads mapped on it was observed after the SMN1 reads coverage in cases F1-II.1 and F2-II.1, and the region in the control group had read distributions. b Cases F1-II.1 and F2-II.1’s mapping sequences result generated by Tablet, and the sequences near the novel SMN1 exon 1 deletion hotspot, NG_008691.1:g.7385

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BMC Neurology

ISSN: 1471-2377

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