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https://doi.org/10.1038/hgv.2016.40
| Title: | Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2 | Authors: | Yoshimoto, S Harahap, N.I.F Hamamura, Y Ar Rochmah, M Shima, A Morisada, N Shinohara, M Saito, T Saito, K Lai, P.S Matsuo, M Awano, H Morioka, I Iijima, K Nishio, H |
Keywords: | survival motor neuron protein 1 survival motor neuron protein 2 alternative RNA splicing Article capillary electrophoresis controlled study exon fibroblast genetic transcription human human cell intron nucleotide sequence priority journal reverse transcription polymerase chain reaction spinal muscular atrophy |
Issue Date: | 2016 | Citation: | Yoshimoto, S, Harahap, N.I.F, Hamamura, Y, Ar Rochmah, M, Shima, A, Morisada, N, Shinohara, M, Saito, T, Saito, K, Lai, P.S, Matsuo, M, Awano, H, Morioka, I, Iijima, K, Nishio, H (2016). Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2. Human Genome Variation 3 : 16040. ScholarBank@NUS Repository. https://doi.org/10.1038/hgv.2016.40 | Rights: | Attribution 4.0 International | Abstract: | Both survival of motor neuron (SMN) genes are associated with spinal muscular atrophy; mutations in SMN1 cause the disease, and SMN2 modulates its severity. It is established that different alternative splicing of exon 7 occurs for SMN1 and SMN2, and a cryptic exon was recently found in intron 6 of both genes. Here, we characterize this cryptic exon and clarify its alternative splicing pattern in control and spinal muscular atrophy cells. © 2016 The Author (S). | Source Title: | Human Genome Variation | URI: | https://scholarbank.nus.edu.sg/handle/10635/178749 | ISSN: | 2054345X | DOI: | 10.1038/hgv.2016.40 | Rights: | Attribution 4.0 International |
| Appears in Collections: | Elements Staff Publications |
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