Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects

Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects

Abstract Background DNA repair deficiency disorders are rare inherited diseases arising from pathogenic (disease-causing) variants in genes involved in DNA repair. There are no standardized diagnostic assays for the investigation of pathological significance of unknown variants in DNA repair genes....

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Bibliographic Details
Main Authors: Ola Hammarsten, Anna Lyytikäinen, Sofia Thunström, Torben Ek, Anders Fasth, Olov Ekwall, Sara Cajander, Emilie Wahren Borgström, C. I. Edvard Smith, Pegah Johansson
Format: Article
Language:English
Published: BMC 2022-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cell division assay (CDA)
γ-H2AX
DNA repair deficiency disorders
Ionizing radiation sensitivity
Mitomycin C sensitivity
Clinical diagnosis
Online Access:https://doi.org/10.1186/s13023-022-02199-8

Internet

https://doi.org/10.1186/s13023-022-02199-8

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