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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...
Gorde:
| Argitaratua izan da: | Rare Dis |
|---|---|
| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Taylor & Francis
2015
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| Gaiak: | |
| Sarrera elektronikoa: | 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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