PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

DNA replication is fundamental for cell proliferation in all organisms. Nonetheless, components of the replisome have been implicated in human disease, and here we report PRIM1 encoding the catalytic subunit of DNA primase as a novel disease gene. Using a variant classification agnostic approach, bi...

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Detalles Bibliográficos
Autores principales: Parry, David A., Tamayo-Orrego, Lukas, Carroll, Paula, Marsh, Joseph A., Greene, Philip, Murina, Olga, Uggenti, Carolina, Leitch, Andrea, Káposzta, Rita, Merő, Gabriella, Nagy, Andrea, Orlik, Brigitta, Kovács-Pászthy, Balázs, Quigley, Alan J., Riszter, Magdolna, Rankin, Julia, Reijns, Martin A.M., Szakszon, Katalin, Jackson, Andrew P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608753/
https://www.ncbi.nlm.nih.gov/pubmed/33060134
http://dx.doi.org/10.1101/gad.340190.120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608753/
https://www.ncbi.nlm.nih.gov/pubmed/33060134
http://dx.doi.org/10.1101/gad.340190.120

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