Carregant...
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...
Guardat en:
| Publicat a: | Pediatr Blood Cancer |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
|
| Matèries: | |
| Accés en línia: | 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 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|