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

Benzer Materyaller

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