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 (SCI-Expanded) identifier identifier identifier


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.