A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3′ end processing is associated with intellectual disability in humans

CSTF2 encodes an RNA-binding protein that is essential for mRNA cleavage and polyadenylation (C/P). No disease-associated mutations have been described for this gene. Here, we report a mutation in the RNA recognition motif (RRM) of CSTF2 that changes an aspartic acid at position 50 to alanine (p.D50...

Descripción completa

Detalles Bibliográficos
Autores principales: Grozdanov, Petar N, Masoumzadeh, Elahe, Kalscheuer, Vera M, Bienvenu, Thierry, Billuart, Pierre, Delrue, Marie-Ange, Latham, Michael P, MacDonald, Clinton C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Molecular Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7515730/
https://www.ncbi.nlm.nih.gov/pubmed/32816001
http://dx.doi.org/10.1093/nar/gkaa689

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7515730/
https://www.ncbi.nlm.nih.gov/pubmed/32816001
http://dx.doi.org/10.1093/nar/gkaa689

Ejemplares similares