Article
Molecular genetic studies of two families with X-linked chronic granulomatous disease: mutation analysis and definitive determination of carrier status in patients' sisters.
European journal of haematology - 1 Feb 1994
Ariga T, Sakiyama Y, Furuta H, Matsumoto S
Abstract excerpt
Molecular genetic studies of two families with X-linked chronic granulomatous disease (X-CGD) were performed. The patients showed abnormal patterns on Southern blot analysis using cytochrome b heavy chain (CYBB) cDNA as a probe. Both patterns differed and neither has ever been observed in normal...
Topics
- Amino Acid Sequence
- Base Sequence
- Cytochrome b Group
- Female
- Genetic Carrier Screening
- Granulomatous Disease, Chronic
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length