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Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation

We recently reported a 59 year old female, designated WHIM-09, who was born with the rare immunodeficiency disease WHIM syndrome but underwent spontaneous phenotypic reversion as an adult. The causative WHIM mutation CXCR4(R334X) was absent in her myeloid and erythroid lineage, but present in her ly...

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Bibliografiske detaljer
Udgivet i:Rare Dis
Main Authors: McDermott, David H, Gao, Ji-Liang, Murphy, Philip M
Format: Artigo
Sprog:Inglês
Udgivet: Taylor & Francis 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4588533/
https://ncbi.nlm.nih.gov/pubmed/26459672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/21675511.2015.1073430
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