The diversity of mutations and clinical outcomes for ELANE-associated neutropenia

PURPOSE OF REVIEW: Mutations in the gene for neutrophil elastase, ELANE, cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN). This study summarized data from the Severe Chronic Neutropenia International Registry (SCNIR) on genotype–phenotype relationships of ELANE mutations to imp...

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Detalhes bibliográficos
Publicado no:Curr Opin Hematol
Main Authors: Makaryan, Vahagn, Zeidler, Cornelia, Bolyard, Audrey Anna, Skokowa, Julia, Rodger, Elin, Kelley, Merideth L., Boxer, Laurence A., Bonilla, Mary Ann, Newburger, Peter E., Shimamura, Akiko, Zhu, Bin, Rosenberg, Philip S., Link, Daniel C., Welte, Karl, Dale, David C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4380169/
https://ncbi.nlm.nih.gov/pubmed/25427142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MOH.0000000000000105
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