1 Hæmatologisk Klinik, Finsencentret, Rigshospitalet, The Capital Region of Denmark
new lane for ELANE
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).
Blood, 2014, Vol 123, Issue 4, p. 462-3
Comment; Journal Article; Humans; Leukocyte Elastase; Mutation; Neutropenia; Protein Biosynthesis