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Brief Communication
Nature Genetics 37, 931–933 (1 September 2005) | doi:10.1038/ng1624
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
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Abstract
Seven Fanconi anemia–associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. Cells from individuals with Fanconi anemia of complementation groups D1 and J (FA-D1 and FA-J) have normal FANCD2 ubiquitination.
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