Severe congenital neutropenia: new lane for ELANE

Niels Borregaard

    8 Citationer (Scopus)

    Abstract

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutropenia (SCN).

    OriginalsprogEngelsk
    TidsskriftBlood
    Vol/bind123
    Udgave nummer4
    Sider (fra-til)462-3
    Antal sider2
    ISSN0006-4971
    DOI
    StatusUdgivet - 23 jan. 2014

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