Journal
NATURE GENETICS
Volume 43, Issue 2, Pages 138-U85Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.751
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Funding
- Cancer Center Amsterdam-VU Medisch Centrum Institute for Cancer and Immunology (CCA/V-ICI) Amsterdam
- Dutch Cancer Society
- Schroeder-Kurth-Fund
- Medical Research Council UK
- MRC [MC_U127070192] Funding Source: UKRI
- Medical Research Council [MC_U127070192] Funding Source: researchfish
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DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair. Here we report the first human individuals found to have biallelic mutations in SLX4. These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.
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