التفاصيل البيبلوغرافية
| العنوان: |
A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy |
| المؤلفون: |
Jose Antonio Tavares de Albuquerque, Alessandra Miramontes Lima, Edgar Borges de Oliveira Junior, Edson Kiyotaka Ishizuka, Walmir Cutrim Aragão-Filho, Nuria Bengala Zurro, Sônia Mayumi Chiba, Fátima Rodrigues Fernandes, Antonio Condino-Neto |
| المصدر: |
Frontiers in Pediatrics, Vol 7 (2019) |
| بيانات النشر: |
Frontiers Media S.A., 2019. |
| سنة النشر: |
2019 |
| المجموعة: |
LCC:Pediatrics |
| مصطلحات موضوعية: |
chronic granulomatous disease, NADPH oxidase, NCF2 gene, novel mutation, interferon-gamma, Pediatrics, RJ1-570 |
| الوصف: |
Chronic granulomatous disease (CGD) is an inherited, genetically heterogeneous disease characterized by defective phagocytic cell microbicidal function, leading to increased susceptibility to bacterial and fungal infections. CGD is caused by mutations in components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, which is responsible for reactive oxygen species production during phagocytosis. Mutations in the neutrophil cytosolic factor 2 (NCF2) gene account for |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2296-2360 |
| Relation: |
https://www.frontiersin.org/article/10.3389/fped.2019.00391/full; https://doaj.org/toc/2296-2360 |
| DOI: |
10.3389/fped.2019.00391 |
| URL الوصول: |
https://doaj.org/article/2219b12ad01f45dcaa73868bc460de01 |
| رقم الانضمام: |
edsdoj.2219b12ad01f45dcaa73868bc460de01 |
| قاعدة البيانات: |
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