A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong predisposition to cancer. A total of 17 FA disease genes have been reported, all of which act...

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Published in:Nat Commun
Main Authors: Ameziane, Najim, May, Patrick, Haitjema, Anneke, van de Vrugt, Henri J., van Rossum-Fikkert, Sari E., Ristic, Dejan, Williams, Gareth J., Balk, Jesper, Rockx, Davy, Li, Hong, Rooimans, Martin A., Oostra, Anneke B., Velleuer, Eunike, Dietrich, Ralf, Bleijerveld, Onno B., Maarten Altelaar, A. F., Meijers-Heijboer, Hanne, Joenje, Hans, Glusman, Gustavo, Roach, Jared, Hood, Leroy, Galas, David, Wyman, Claire, Balling, Rudi, den Dunnen, Johan, de Winter, Johan P., Kanaar, Roland, Gelinas, Richard, Dorsman, Josephine C.
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4703882/
https://ncbi.nlm.nih.gov/pubmed/26681308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms9829
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