Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2

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...

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Bibliografiska uppgifter
I publikationen:Hum Genome Var
Huvudupphovsmän: Yoshimoto, Satomi, Harahap, Nur Imma Fatimah, Hamamura, Yuko, Ar Rochmah, Mawaddah, Shima, Ai, Morisada, Naoya, Shinohara, Masakazu, Saito, Toshio, Saito, Kayoko, Lai, Poh San, Matsuo, Masafumi, Awano, Hiroyuki, Morioka, Ichiro, Iijima, Kazumoto, Nishio, Hisahide
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2016
Ämnen:
Data Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5131094/
https://ncbi.nlm.nih.gov/pubmed/27917293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.40
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