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Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D. Kalb R, et al. Among authors: grompe m. Am J Hum Genet. 2007 May;80(5):895-910. doi: 10.1086/517616. Epub 2007 Apr 6. Am J Hum Genet. 2007. PMID: 17436244 Free PMC article.
Fanconi anemia and DNA repair.
Grompe M, D'Andrea A. Grompe M, et al. Hum Mol Genet. 2001 Oct 1;10(20):2253-9. doi: 10.1093/hmg/10.20.2253. Hum Mol Genet. 2001. PMID: 11673408 Review.
The Fanconi anaemia/BRCA pathway.
D'Andrea AD, Grompe M. D'Andrea AD, et al. Among authors: grompe m. Nat Rev Cancer. 2003 Jan;3(1):23-34. doi: 10.1038/nrc970. Nat Rev Cancer. 2003. PMID: 12509764 Review.
BRCA1 interacts directly with the Fanconi anemia protein FANCA.
Folias A, Matkovic M, Bruun D, Reid S, Hejna J, Grompe M, D'Andrea A, Moses R. Folias A, et al. Among authors: grompe m. Hum Mol Genet. 2002 Oct 1;11(21):2591-7. doi: 10.1093/hmg/11.21.2591. Hum Mol Genet. 2002. PMID: 12354784
280 results