A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

Inherited bone marrow failure syndromes are human conditions in which one or several cell lineages of the hemopoietic system are affected. They are present at birth or may develop progressively. They are sometimes accompanied by other developmental anomalies. Three main molecular causes have been re...

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Détails bibliographiques
Publié dans:J Exp Med
Auteurs principaux: Zhang, Shu, Pondarre, Corinne, Pennarun, Gaelle, Labussiere-Wallet, Helene, Vera, Gabriella, France, Benoit, Chansel, Marie, Rouvet, Isabelle, Revy, Patrick, Lopez, Bernard, Soulier, Jean, Bertrand, Pascale, Callebaut, Isabelle, de Villartay, Jean-Pierre
Format: Artigo
Langue:Inglês
Publié: The Rockefeller University Press 2016
Sujets:
Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4886357/
https://ncbi.nlm.nih.gov/pubmed/27185855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20151183
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