Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

DNA polymerase ε (Polε) is a large, four-subunit polymerase that is conserved throughout the eukaryotes. Its primary function is to synthesize DNA at the leading strand during replication. It is also involved in a wide variety of fundamental cellular processes, including cell cycle progression and D...

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Detalles Bibliográficos
Autores principales: Pachlopnik Schmid, Jana, Lemoine, Roxane, Nehme, Nadine, Cormier-Daire, Valéry, Revy, Patrick, Debeurme, Franck, Debré, Marianne, Nitschke, Patrick, Bole-Feysot, Christine, Legeai-Mallet, Laurence, Lim, Annick, de Villartay, Jean-Pierre, Picard, Capucine, Durandy, Anne, Fischer, Alain, de Saint Basile, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2012
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526359/
https://www.ncbi.nlm.nih.gov/pubmed/23230001
http://dx.doi.org/10.1084/jem.20121303

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526359/
https://www.ncbi.nlm.nih.gov/pubmed/23230001
http://dx.doi.org/10.1084/jem.20121303

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