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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
Journal
Frontiers in Pediatrics
ISSN
2296-2360
Date Issued
2019
Author(s)
Alejandra Aird
Macarena Lagos
Alexander Vargas-Hernández
Jennifer E. Posey
Zeynep Coban-Akdemir
Shalini Jhangiani
Emily M. Mace
Anaid Reyes
Alejandra King
Felipe Cavagnaro
Lisa R. Forbes
Ivan K. Chinn
James R. Lupski
Jordan S. Orange
POLI HARLOWE, MARIA CECILIA BERTA
Facultad de Medicina Clínica Alemana Universidad del Desarrollo
Type
Resource Types::text::journal::journal article
DOI
10.3389/fped.2019.00303
URL
https://investigadores.udd.cl/handle/123456789/2417
Project(s)
Deciphering the mechanisms of disease and therapeutic targets for proteasome maturation protein (pomp) related autoinflammation and immune dysregulation
Scopus© citations
18
Acquisition Date
May 23, 2024
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4
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Nov 14, 2024
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