Chromothriptic Cure of WHIM Syndrome

Chromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here we report a case in which chromothripsis spontaneously cured a patient with WHIM syndrome, an autosomal dominant combined immunodeficiency disease caused...

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Foilsithe in:Cell
Main Authors: McDermott, David H., Gao, Ji-Liang, Liu, Qian, Siwicki, Marie, Martens, Craig, Jacobs, Paejonette, Velez, Daniel, Yim, Erin, Bryke, Christine R., Hsu, Nancy, Dai, Zunyan, Marquesen, Martha M., Stregevsky, Elina, Kwatemaa, Nana, Theobald, Narda, Long Priel, Debra A., Pittaluga, Stefania, Raffeld, Mark A., Calvo, Katherine R., Maric, Irina, Desmond, Ronan, Holmes, Kevin L., Kuhns, Douglas B., Balabanian, Karl, Bachelerie, Françoise, Porcella, Stephen F., Malech, Harry L., Murphy, Philip M.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2015
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4329071/
https://ncbi.nlm.nih.gov/pubmed/25662009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2015.01.014
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