Four differentNCF2mutations in six families from Turkey and an overview ofNCF2gene mutations

Volume: 39, Issue: 10, Pages: 942 - 951
Published: Sep 15, 2009
Abstract
Background One of the rarest forms of autosomal recessive chronic granulomatous disease (AR‐CGD) is attributable to mutations in the NCF2 gene, which encodes the polypeptide p67 phox , a key cytoplasmic protein in the phagocyte NADPH oxidase system. NCF2 is localized on chromosome 1q25, encompasses 40 kb and contains 16 exons. Materials and methods We report here the clinical and molecular characterization of six patients with CGD from six...
Paper Details
Title
Four differentNCF2mutations in six families from Turkey and an overview ofNCF2gene mutations
Published Date
Sep 15, 2009
Volume
39
Issue
10
Pages
942 - 951
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