Article
Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.
Pediatric research - 1 Jul 1998
Ariga T, Furuta H, Cho K, Sakiyama Y
Abstract excerpt
X-linked chronic granulomatous disease (X-CGD) is the most common type of CGD, whose responsible gene has been identified and termed as CYBB, according to the gp91-phox, a subunit of cytochrome b558. Although approximately 200 different mutations of the gp91-phox gene have been reported, no preci...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- DNA Primers
- DNA Transposable Elements
- Exons
- Family
- Female
- Genetic Carrier Screening
- Genomic Imprinting
- Granulomatous Disease, Chronic
- Humans
- Male
- Membrane Glycoproteins
- Mutation
- NADPH Oxidase 2
- NADPH Oxidases
- Point Mutation