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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Bibliografski detalji
Izdano u:Curr Opin Hematol
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2015
Teme:
Article
Online pristup: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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