Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
Author:
Funder
Research on Measures for Intractable Disease Project
Claudia von Schilling Foundation for Breast Cancer Research
MEXT/JSPS KAKENHI
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01591-8.pdf
Reference28 articles.
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2. Kashimada A, Hasegawa S, Nomura T, Shiraku H, Moriyama K, Suzuki T, et al. Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Brain Dev. 2019;41:150–7.
3. Rahman S, Canny MD, Buschmann TA, Latham MP. A survey of reported disease-related mutations in the MRE11-RAD50-NBS1 complex. Cells. 2020;9:1678.
4. Sharapova SO, Pashchenko OE, Bondarenko AV, Vakhlyarskaya SS, Prokofjeva T, Fedorova AS, et al. Geographical distribution, incidence, malignancies, and outcome of 136 eastern slavic patients with Nijmegen breakage syndrome and NBN founder variant c.657_661del5. Front Immunol. 2021;11:602482.
5. McCarthy-Leo C, Darwiche F, Tainsky MA. DNA repair mechanisms, protein interactions and therapeutic targeting of the MRN complex. Cancers. 2022;14:5278.
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