PUF60-activated exons uncover altered 3′ splice-site selection by germline missense mutations in a single RRM

PUF60 is a splicing factor that binds uridine (U)-rich tracts and facilitates association of the U2 small nuclear ribonucleoprotein with primary transcripts. PUF60 deficiency (PD) causes a developmental delay coupled with intellectual disability and spinal, cardiac, ocular and renal defects, but PD...

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Detalles Bibliográficos
Autores principales: Královičová, Jana, Ševčíková, Ivana, Stejskalová, Eva, Obuća, Mina, Hiller, Michael, Staněk, David, Vořechovský, Igor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093180/
https://www.ncbi.nlm.nih.gov/pubmed/29788428
http://dx.doi.org/10.1093/nar/gky389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093180/
https://www.ncbi.nlm.nih.gov/pubmed/29788428
http://dx.doi.org/10.1093/nar/gky389

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