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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Conte, Matilde I; Poli, M Cecilia; Taglialatela, Angelo; Leuzzi, Giuseppe; Chinn, Ivan K; Salinas, Sandra A; Rey-Jurado, Emma; Olivares, Nixa; Veramendi-Espinoza, Liz; Ciccia, Alberto; Lupski, James R; Aldave Becerra, Juan Carlos; Mace, Emily M; Orange, Jordan S.
Afiliação
  • Conte MI; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA.
  • Poli MC; Faculty of Medicine, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
  • Taglialatela A; Immunology and Rheumatology Unit, Hospital Roberto del Rio, Santiago, Chile.
  • Leuzzi G; Department of Genetics and Development, Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, New York, USA.
  • Chinn IK; Department of Genetics and Development, Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, New York, USA.
  • Salinas SA; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Rey-Jurado E; Division of Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, Texas, USA.
  • Olivares N; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA.
  • Veramendi-Espinoza L; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Ciccia A; Faculty of Medicine, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
  • Lupski JR; Faculty of Medicine, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
  • Aldave Becerra JC; Allergy and Clinical Immunology, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
  • Mace EM; Department of Genetics and Development, Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, New York, USA.
  • Orange JS; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
JCI Insight ; 7(21)2022 11 08.
Article em En | MEDLINE | ID: mdl-36345943
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neutropenia Limite: Humans Idioma: En Revista: JCI Insight Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neutropenia Limite: Humans Idioma: En Revista: JCI Insight Ano de publicação: 2022 Tipo de documento: Article