Article
Screening the human bradykinin B2 receptor gene in patients with cardiovascular diseases: identification of a functional mutation in the promoter and a new coding variant (T21M).
American journal of medical genetics - 28 Dec 1998
Erdmann J, Hegemann N, Weidemann A, Kallisch H, Hummel M, Hetzer R, Fleck E, Regitz-Zagrosek V
Abstract excerpt
To elucidate if genetic variants in the bradykinin B2 receptor (B2) gene occur that could affect receptor expression and function, we screened for mutations in the promoter and in the coding region of the human B2 gene. In our initial study we analyzed 92 consecutive, unrelated subjects (includin...
Topics
- Cardiovascular Diseases
- Electrophoresis, Polyacrylamide Gel
- Genetic Testing
- Genetic Variation
- Humans
- Mutation
- Nucleic Acid Heteroduplexes
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Promoter Regions, Genetic
- Receptor, Bradykinin B2
- Receptors, Bradykinin