Natural Killer Cell Deficiency in Neuroblastoma Amplified Sequence Gene Mutation
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference14 articles.
1. Complex multisystem phenotype with immunodeficiency associated with NBAS mutations: reports of three patients and review of the literature;Khoreva A;Front Pediatr,2020
2. Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2;Wang J;Mol Med Rep,2018
3. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients;Staufner C;Genet Med,2020
4. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly;Maksimova N;J Med Genet,2010
5. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina;Segarra NG;Am J Med Genet A,2015
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene;Human Genome Variation;2023-04-13
2. NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis;Journal of Hematology & Oncology;2022-07-28
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