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How We Approach: Severe Congenital Neutropenia and Myelofibrosis due to Mutations in VPS45
Mutations in the VPS45 gene lead to a severe primary immune deficiency characterised by severe congenital neutropenia and primary myelofibrosis, leading to overwhelming infection and early death. This condition is exceedingly rare with only 16 patients previously reported, including four with succes...
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| Publicado no: | Pediatr Blood Cancer |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6249036/ https://ncbi.nlm.nih.gov/pubmed/30294941 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.27473 |
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