Long Polymerase Chain Reaction-Based Fluorescence in Situ Hybridization Analysis of Female Carriers of X-Linked Chronic Granulomatous Disease Deletions
The Journal of molecular diagnostics : JMD, Volume 7, Issue 2, 2005, Pages 183-186.
exonsheterozygotepolymerase chain reaction
Chronic granulomatous disease (CGD) is a rare inherited disorder in which antimicrobial activity of phagocytes is impaired due to the lack of reactive oxygen species, or oxidative burst, produced by NADPH oxidase. The X-linked form of CGD, representing approximately 70% of all cases, is caused by mutations in the cytochrome b beta subunit...More
Full Text (Upload PDF)
PPT (Upload PPT)