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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: 2015
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker