Article
G protein-coupled receptor structure and function: the impact of disease-causing mutations.
Bailliere's clinical endocrinology and metabolism - 1 Jul 1995
Shenker A
Abstract excerpt
Just as the discovery of 'inborn errors of metabolism' in humans contributed to our basic understanding of normal enzymatic pathways, so can genetic defects in signal transduction help to elucidate the functions normally subserved by different GPCR pathways. Identification and characterization of naturally occurring GPCR mutations not only has inherent value in understanding the molecular basis of disease, but...
Topics
- GTP-Binding Proteins
- Humans
- Male
- Mutation
- Phenotype
- Polymorphism, Genetic
- Puberty, Precocious
- Receptors, Cell Surface
- Retinitis
- Rhodopsin
- Thyroid Diseases