サイトウ　カヨコ   Saitou Kayoko   齋藤　加代子    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読なし
表題	Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2.
掲載誌名	正式名：Human genome variation 略　 称：Hum Genome Var ISSNコード：2054345X/2054345X
掲載区分	国外
巻・号・頁	3,pp.16040
著者・共著者	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
発行年月	2016
概要	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 both genes. Here, we characterize this cryptic exon and clarify its alternative splicing pattern in control and spinal muscular atrophy cells.
DOI	10.1038/hgv.2016.40
PMID	27917293