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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Data Report
Acesso em linha: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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