Article
Splice site mutations are a common cause of X-linked chronic granulomatous disease.
Blood - 15 Sept 1992
de Boer M, Bolscher B G, Dinauer M C, Orkin S H, Smith C I, Ahlin A, Weening R S, Roos D
Abstract excerpt
Chronic granulomatous disease (CGD) is characterized by the absence of a respiratory burst in activated phagocytes. Defects in at least four different genes lead to CGD. Patients with the X-linked form of CGD have mutations in the gene for the beta-subunit of cytochrome b558 (gp91-phox). We studi...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Western
- Exons
- Granulomatous Disease, Chronic
- Humans
- Molecular Sequence Data
- Monocytes
- Mutation
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger
- X Chromosome