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Biochemical properties of naturally occurring human bloom helicase variants

Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replication, DNA repair, and telomere maintenance. Mutations in human BLM cause Bloom syndrome (BS), an autosomal recessive disorder that leads to myriad negative health impacts inclu...

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Detalles Bibliográficos
Autores principales: Cueny, Rachel R., Varma, Sameer, Schmidt, Kristina H., Keck, James L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10237670/
https://www.ncbi.nlm.nih.gov/pubmed/37267408
http://dx.doi.org/10.1371/journal.pone.0281524