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

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. We hypot...

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Detalles Bibliográficos
Autores principales: Hammarsten, Ola, Lyytikäinen, Anna, Thunström, Sofia, Ek, Torben, Fasth, Anders, Ekwall, Olov, Cajander, Sara, Borgström, Emilie Wahren, Smith, C. I. Edvard, Johansson, Pegah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842932/
https://www.ncbi.nlm.nih.gov/pubmed/35164800
http://dx.doi.org/10.1186/s13023-022-02199-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842932/
https://www.ncbi.nlm.nih.gov/pubmed/35164800
http://dx.doi.org/10.1186/s13023-022-02199-8

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