Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

Conte, M. I., Poli, M. C., Taglialatela, A., Leuzzi, G., Chinn, I. K., Salinas, S. A., Rey-Jurado, E., Olivares, N., Veramendi-Espinoza, L., Ciccia, A., Lupski, J. R., Aldave Becerra, J. C., Mace, E. M., & Orange, J. S. (2022). Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight, 7(21). https://doi.org/10.1172/jci.insight.154948
Authors:
Matilde Immacolata Conte
M. Cecilia Poli
Angelo Taglialatela
Giuseppe Leuzzi
Iván K. Chinn
Sandra Andrea Salinas
Emma Rey-Jurado
Nixa Olivares
Liz Eliana Veramendi-Espinoza
Alberto Ciccia
James R. Lupski
Juan Carlos Aldave Becerra
Emily M. Mace
Jordan S. Orange
Affiliated Authors:
Matilde Immacolata Conte
Angelo Taglialatela
Giuseppe Leuzzi
Sandra Andrea Salinas
Alberto Ciccia
Emily M. Mace
Jordan S. Orange
Author Keywords:
cell biology
cell cycle
immunology
monogenic diseases
nk cells
Publication Type:
Article
Unique ID:
10.1172/jci.insight.154948
PMID:
Journal:
Publication Date:
Data Source:
OpenAlex

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