Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

The iron-sulfur-containing DNA helicases XPD, FANCJ, DDX11, and RTEL represent a small subclass of superfamily 2 helicases. XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. Here, we report a human individual with biallelic mutations in...

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Autori principali: van der Lelij, Petra, Chrzanowska, Krystyna H., Godthelp, Barbara C., Rooimans, Martin A., Oostra, Anneke B., Stumm, Markus, Zdzienicka, Małgorzata Z., Joenje, Hans, de Winter, Johan P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2820174/
https://ncbi.nlm.nih.gov/pubmed/20137776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.01.008
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