Biallelic inactivation of REV7 is associated with Fanconi anemia

Fanconi anemia (FA) is a recessive genetic disease characterized by congenital abnormalities, chromosome instability, progressive bone marrow failure (BMF), and a strong predisposition to cancer. Twenty FA genes have been identified, and the FANC proteins they encode cooperate in a common pathway th...

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Vydáno v:J Clin Invest
Hlavní autoři: Bluteau, Dominique, Masliah-Planchon, Julien, Clairmont, Connor, Rousseau, Alix, Ceccaldi, Raphael, Dubois d’Enghien, Catherine, Bluteau, Olivier, Cuccuini, Wendy, Gachet, Stéphanie, Peffault de Latour, Régis, Leblanc, Thierry, Socié, Gérard, Baruchel, André, Stoppa-Lyonnet, Dominique, D’Andrea, Alan D., Soulier, Jean
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2016
Témata:
Brief Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004932/
https://ncbi.nlm.nih.gov/pubmed/27500492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI88010
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