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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2010
Teme:
Report
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki