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ELANE Mutations in Cyclic and Severe Congenital Neutropenia—Genetics and Pathophysiology

There are two main forms of hereditary neutropenia: cyclic and severe congenital neutropenia (SCN). Cyclic neutropenia is an autosomal dominant disorder in which neutrophil counts fluctuate between nearly normal levels and close to zero with 21-day periodicity. In contrast, SCN, also known as Kostma...

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Detalhes bibliográficos
Main Authors: Horwitz, Marshall S., Corey, Seth J., Grimes, H. Leighton, Tidwell, Timothy
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3559001/
https://ncbi.nlm.nih.gov/pubmed/23351986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hoc.2012.10.004
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