Article
Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.
Human genetics - 1 Jan 2005
Stasia Marie José, Bordigoni Pierre, Floret Daniel, Brion Jean Paul, Bost-Bru Cécile, Michel Gérard, Gatel Pierre, Durant-Vital Denis, Voelckel Marie Antoinette, Li Xing Jun, Guillot Michèle, Maquet Elisabeth, Martel Cécile, Morel Françoise
Abstract excerpt
Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and so cannot generate superoxide anions (O(2) (-)). The most common form is caused by mutations in CYBB encoding gp91 phox, the heavy chain of flavocytochrome b(558) (XCGD). We investigated 11 male patients and their families suspected of suffering from X-linked CGD. These XCGD patients were classified as...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.