Article
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
Nature genetics - 1 Sept 2005
Levitus Marieke, Waisfisz Quinten, Godthelp Barbara C, de Vries Yne, Hussain Shobbir, Wiegant Wouter W, Elghalbzouri-Maghrani Elhaam, Steltenpool Jûrgen, Rooimans Martin A, Pals Gerard, Arwert Fré, Mathew Christopher G, Zdzienicka Małgorzata Z, Hiom Kevin, De Winter Johan P, Joenje Hans
Abstract excerpt
The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.