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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Gepubliceerd in:Cell
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2015
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Article
Online toegang: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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