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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Pubblicato in:Curr Opin Hematol
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online: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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