RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

Despite being the first homolog of the bacterial RecQ helicase to be identified in humans, the function of RECQL1 remains poorly characterized. Furthermore, unlike other members of the human RECQ family of helicases, mutations in RECQL1 have not been associated with a genetic disease. Here, we ident...

Descripción completa

Detalles Bibliográficos
Autores principales: Abu-Libdeh, Bassam, Jhujh, Satpal S., Dhar, Srijita, Sommers, Joshua A., Datta, Arindam, Longo, Gabriel M.C., Grange, Laura J., Reynolds, John J., Cooke, Sophie L., McNee, Gavin S., Hollingworth, Robert, Woodward, Beth L., Ganesh, Anil N., Smerdon, Stephen J., Nicolae, Claudia M., Durlacher-Betzer, Karina, Molho-Pessach, Vered, Abu-Libdeh, Abdulsalam, Meiner, Vardiella, Moldovan, George-Lucian, Roukos, Vassilis, Harel, Tamar, Brosh, Robert M., Stewart, Grant S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884905/
https://www.ncbi.nlm.nih.gov/pubmed/35025765
http://dx.doi.org/10.1172/JCI147301

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884905/
https://www.ncbi.nlm.nih.gov/pubmed/35025765
http://dx.doi.org/10.1172/JCI147301

Ejemplares similares