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

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

dc.contributor.author	Conte, Matilde
dc.contributor.author	Poli, Cecilia
dc.contributor.author	Taglialatela, Angelo
dc.contributor.author	Leuzzi, Giuseppe
dc.contributor.author	Chinn, Ivan
dc.contributor.author	Salinas, Sandra
dc.contributor.author	Rey, Emma
dc.contributor.author	Olivares, Nixa
dc.contributor.author	Veramendi, Liz
dc.contributor.author	Ciccia, Alberto
dc.contributor.author	Lupsk, James
dc.contributor.author	Orange, Jordan
dc.contributor.author	Aldave, Juan
dc.contributor.author	Mace, Emily
dc.date.accessioned	2023-04-10T15:41:23Z
dc.date.available	2023-04-10T15:41:23Z
dc.date.issued	2022
dc.description.version	Versión publicada
dc.identifier.citation	Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS. Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948
dc.identifier.doi	https://doi.org/10.1172/jci.insight.154948
dc.identifier.uri	https://repositorio.udd.cl/handle/11447/7283
dc.language.iso	en
dc.subject	Cell Biology
dc.subject	Cell cycle
dc.subject	Immunology
dc.subject	Monogenic diseases
dc.subject	NK cells
dc.title	Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia
dc.type	Article
dcterms.accessRights	Acceso Abierto
dcterms.source	Journal of clinical investigation insight
dspace.entity.type	Publication