Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease


KÖKER M. Y. , van Leeuwen K., de Boer M., Celmeli F., Metin A., Oezguer T. T. , ...More

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, vol.39, no.4, pp.311-319, 2009 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 4
  • Publication Date: 2009
  • Doi Number: 10.1111/j.1365-2362.2009.02093.x
  • Title of Journal : EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
  • Page Numbers: pp.311-319

Abstract

One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the CYBA gene, which encodes the alpha polypeptide of cytochrome b(558), (also known as p22-phox), a key transmembrane protein in the phagocyte NADPH oxidase system. This gene is localized on chromosome 16q24, encompasses 8.5 kb and contains six exons.