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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group 2016
Ábhair:
Data Report
Rochtain Ar Líne: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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