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Please use this identifier to cite or link to this item: https://doi.org/10.1038/hgv.2016.40
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dc.titleAlternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
dc.contributor.authorYoshimoto, S
dc.contributor.authorHarahap, N.I.F
dc.contributor.authorHamamura, Y
dc.contributor.authorAr Rochmah, M
dc.contributor.authorShima, A
dc.contributor.authorMorisada, N
dc.contributor.authorShinohara, M
dc.contributor.authorSaito, T
dc.contributor.authorSaito, K
dc.contributor.authorLai, P.S
dc.contributor.authorMatsuo, M
dc.contributor.authorAwano, H
dc.contributor.authorMorioka, I
dc.contributor.authorIijima, K
dc.contributor.authorNishio, H
dc.date.accessioned2020-10-21T08:14:40Z
dc.date.available2020-10-21T08:14:40Z
dc.date.issued2016
dc.identifier.citationYoshimoto, 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
dc.identifier.issn2054345X
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/178749
dc.description.abstractBoth 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).
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceUnpaywall 20201031
dc.subjectsurvival motor neuron protein 1
dc.subjectsurvival motor neuron protein 2
dc.subjectalternative RNA splicing
dc.subjectArticle
dc.subjectcapillary electrophoresis
dc.subjectcontrolled study
dc.subjectexon
dc.subjectfibroblast
dc.subjectgenetic transcription
dc.subjecthuman
dc.subjecthuman cell
dc.subjectintron
dc.subjectnucleotide sequence
dc.subjectpriority journal
dc.subjectreverse transcription polymerase chain reaction
dc.subjectspinal muscular atrophy
dc.typeArticle
dc.contributor.departmentPAEDIATRICS
dc.description.doi10.1038/hgv.2016.40
dc.description.sourcetitleHuman Genome Variation
dc.description.volume3
dc.description.page16040
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