Expanding the clinical phenotype of chronic granulomatous disease: a female patient with a de novo mutation in CYBB

Gelijkaardige items

• Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease
  door: Weening, R S, et al.
  Gepubliceerd in: (2000)
• A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis
  door: de Albuquerque, Jose Antonio Tavares, et al.
  Gepubliceerd in: (2018)
• X-linked Chronic Granulomatous Disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation
  door: Lewis, Eric M, et al.
  Gepubliceerd in: (2008)
• A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report
  door: Xu, Xuehua, et al.
  Gepubliceerd in: (2020)
• Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB).
  door: Battat, L, et al.
  Gepubliceerd in: (1989)