Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome

The eukaryotic CDC45/MCM2-7/GINS (CMG) helicase unwinds the DNA double helix during DNA replication. The GINS subcomplex is required for helicase activity and is, therefore, essential for DNA replication and cell viability. Here, we report the identification of 7 individuals from 5 unrelated familie...

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Detalles Bibliográficos
Autores principales: McQuaid, Mary E., Ahmed, Kashif, Tran, Stephanie, Rousseau, Justine, Shaheen, Ranad, Kernohan, Kristin D., Yuki, Kyoko E., Grover, Prerna, Dreseris, Ema S., Ahmed, Sameen, Dupuis, Lucie, Stimec, Jennifer, Shago, Mary, Al-Hassnan, Zuhair N., Tremblay, Roch, Maass, Philipp G., Wilson, Michael D., Grunebaum, Eyal, Boycott, Kym M., Boisvert, François-Michel, Maddirevula, Sateesh, Faqeih, Eissa A., Almanjomi, Fahad, Khan, Zaheer Ullah, Alkuraya, Fowzan S., Campeau, Philippe M., Kannu, Peter, Campos, Eric I., Wurtele, Hugo
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/PMC9215265/
https://www.ncbi.nlm.nih.gov/pubmed/35603789
http://dx.doi.org/10.1172/jci.insight.155648

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