[Clinical, genetic and molecular characterization of the X-linked chronic granulomatous disease. A case report of a new splicing mutation].

Abstract excerpt

UNLABELLED: Chronic granulomatous disease (CGD) is caused by mutations in the genes that encode five of the subunits of the human NADPH oxidase. The most common form is caused by mutations in CYBB, the human gene encoding gp 91 phox. OBJECTIVE: To identify the molecular defects causing CGD. CASE REPORT: A male patient with a history of acute diarrhea and recurrent perianal abscess since two months old. At 6...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Colombia
• Share to Exons
• Share to Granulomatous Disease, Chronic