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


Koker M. Y. , Van Leeuwen K., De Boer M., Celmeli F., Metin A., Oezguer T. T. , ...Daha Fazla

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, cilt.39, sa.4, ss.311-319, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Konu: 4
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1111/j.1365-2362.2009.02093.x
  • Dergi Adı: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
  • Sayfa Sayıları: ss.311-319

Özet

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.