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A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerat...
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| Publicado no: | Braz J Med Biol Res |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Associação Brasileira de Divulgação Científica
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5423745/ https://ncbi.nlm.nih.gov/pubmed/28355352 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1414-431X20165727 |
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