Study identifies new gene mutation associated with defective DNA repair and Fanconi anemia
3 institutional releases
Published in Journal of Clinical Investigation · View the paper (DOI)
A new gene mutation, RFWD3, has been linked to defective DNA repair and Fanconi anemia, a rare genetic disorder. The mutation was found in a 12-year-old patient without known Fanconi anemia genes, and cells from the patient showed increased susceptibility to DNA damage.
Coverage from 3 institutions
- Study identifies new gene mutation associated with defective DNA repair and Fanconi anemia JCI Journals · Jul 10, 2017 · first to report
- New gene mutation associated with Fanconi anemia University of Würzburg · Jul 14, 2017
- New Fanconi anemia-causing gene identified Universitat Autonoma de Barcelona · Jul 17, 2017