Article
Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder.
The Journal of clinical investigation - 1 Oct 1994
Hirata T, Kakizuka A, Ushikubi F, Fuse I, Okuma M, Narumiya S
Abstract excerpt
Recent advances in molecular genetics have revealed the mechanisms underlying a variety of inherited human disorders. Among them, mutations in G protein-coupled receptors have clearly demonstrated two types of abnormalities, namely loss of function and constitutive activation of the receptors. Th...
Topics
- Amino Acid Sequence
- Animals
- Arginine
- Base Sequence
- Blood Platelet Disorders
- Bridged Bicyclo Compounds
- CHO Cells
- Cloning, Molecular
- Cricetinae
- DNA Mutational Analysis
- Fatty Acids, Monounsaturated
- Female
- Gene Expression
- Genes, Dominant
- Genotype
- Humans
- Male
- Molecular Sequence Data