Article
Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.
European journal of clinical investigation - 1 Apr 2009
Köker M Y, van Leeuwen K, de Boer M, Celmeli F, Metin A, Ozgür T T, Tezcan I, Sanal O, Roos D
Abstract excerpt
BACKGROUND: 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. MATERIALS AND METHODS: We report...
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