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pro vyhledávání: '"Rolenz Studer"'
Autor:
Masahiko Ajiro, Tomonari Awaya, Young Jin Kim, Kei Iida, Masatsugu Denawa, Nobuo Tanaka, Ryo Kurosawa, Shingo Matsushima, Saiko Shibata, Tetsunori Sakamoto, Rolenz Studer, Adrian R. Krainer, Masatoshi Hagiwara
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Familial dysautonomia is caused by splicing mutation of IKBKAP gene, which induces skipping of exon 20 and subsequent functional loss. Here, the authors report that a synthetic splice modulator RECTAS ameliorates pathogenic exon 20 skipping and shows
Externí odkaz:
https://doaj.org/article/41819a0db2e34aa3ab64cc45ca2565eb
