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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study

Fig. 3

Evaluation of the modified LR-PCR method. SMN1-specific LR-PCR amplifications are shown. Patient sample consisted of two copies of SMN1 and two copies of SMN2. A Amplification from exon 1 to exon 8 is shown; in addition to the 28.2 kb target band, there are also non-specific bands. Lane M. Molecular weight marker, Lane 1. Modified method. B Increased coverage of exon 1 to intron 1 of SMN1 with the modified LR-PCR method. Two SNVs, and corresponding nucleotide numbers, in intron 1 of SMN1 identified using the modified LR-PCR method are shown. LR-PCR, long-range polymerase chain reaction; SMN1, survival motor neuron 1; SMN2, survival motor neuron 2; SNVs, single nucleotide variants

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172