A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.
Ying Y, Ye J, Chen Y, Chen Q, Chen Y, Lu X, Xi H, Gu F, Pan D, Zhao J
Clin Chim Acta. 2022 Feb 1;526:14-20. doi: 10.1016/j.cca.2021.12.023. Epub 2021 Dec 28.
(Link opens in a new window)
PubMed
(Link opens in a new window)
Article
Plasmids from Article
No plasmids are currently publicly available from Addgene for this article.