Article
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
Nature genetics - 1 Feb 2011
Stoepker Chantal, Hain Karolina, Schuster Beatrice, Hilhorst-Hofstee Yvonne, Rooimans Martin A, Steltenpool Jurgen, Oostra Anneke B, Eirich Katharina, Korthof Elisabeth T, Nieuwint Aggie W M, Jaspers Nicolaas G J, Bettecken Thomas, Joenje Hans, Schindler Detlev, Rouse John, de Winter Johan P
Abstract excerpt
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...
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