RBM24 promotes U1 snRNP recognition of the mutated 5′ splice site in the IKBKAP gene of familial dysautonomia

The 5′ splice site mutation (IVS20+6T>C) of the inhibitor of κ light polypeptide gene enhancer in B cells, kinase complex-associated protein (IKBKAP) gene in familial dysautonomia (FD) is at the sixth intronic nucleotide of the 5′ splice site. It is known to weaken U1 snRNP recognition and result...

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Detalles Bibliográficos
Autores principales: Ohe, Kenji, Yoshida, Mayumi, Nakano-Kobayashi, Akiko, Hosokawa, Motoyasu, Sako, Yukiya, Sakuma, Maki, Okuno, Yukiko, Usui, Tomomi, Ninomiya, Kensuke, Nojima, Takayuki, Kataoka, Naoyuki, Hagiwara, Masatoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558909/
https://www.ncbi.nlm.nih.gov/pubmed/28592461
http://dx.doi.org/10.1261/rna.059428.116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558909/
https://www.ncbi.nlm.nih.gov/pubmed/28592461
http://dx.doi.org/10.1261/rna.059428.116

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