New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients

Minor intron splicing plays a central role in human embryonic development and survival. Indeed, biallelic mutations in RNU4ATAC, transcribed into the minor spliceosomal U4atac snRNA, are responsible for three rare autosomal recessive multimalformation disorders named Taybi–Linder (TALS/MOPD1), Roifm...

Descripción completa

Detalles Bibliográficos
Autores principales: Cologne, Audric, Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Campan-Fournier, Amandine, Bober, Michael B., De Die-Smulders, Christine E.M., Paulussen, Aimee D.C., Pinson, Lucile, Toutain, Annick, Roifman, Chaim M., Leutenegger, Anne-Louise, Mazoyer, Sylvie, Edery, Patrick, Lacroix, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800510/
https://www.ncbi.nlm.nih.gov/pubmed/31175170
http://dx.doi.org/10.1261/rna.071423.119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800510/
https://www.ncbi.nlm.nih.gov/pubmed/31175170
http://dx.doi.org/10.1261/rna.071423.119

Ejemplares similares