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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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Data Report
Accés en línia: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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