X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation
Author:
Publisher
Elsevier BV
Subject
Immunology,Immunology and Allergy
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1. X-linked chronic granulomatous disease secondary to skewed X-chromosome inactivation in female patients;Clinical and Experimental Immunology;2023-12-08
2. De novo mutation of CYBB gene in a boy presenting as intra-abdominal infection of Burkholderia contaminans: a case report;Italian Journal of Pediatrics;2022-04-01
3. Monogenic Adult-Onset Inborn Errors of Immunity;Frontiers in Immunology;2021-11-17
4. Mutations in cis that affect mRNA synthesis, processing and translation;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2021-09
5. Congenital Defects of Phagocytes;Cellular Primary Immunodeficiencies;2021
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