Article
Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.
The Journal of clinical endocrinology and metabolism - 1 Jun 1993
Miric A, Vechio J D, Levine M A
Abstract excerpt
Albright hereditary osteodystrophy (AHO) is an inherited disorder associated with deficient activity of the alpha-subunit of the guanine nucleotide-binding regulatory protein (Gs alpha) that couples receptors to adenylyl cyclase. To identify mutations that lead to Gs alpha deficiency, we isolated...
Topics
- Adenylyl Cyclases
- Base Sequence
- Child, Preschool
- DNA Restriction Enzymes
- Erythrocyte Membrane
- Exons
- Female
- GTP-Binding Proteins
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Pedigree
- Polymorphism, Genetic
- Pseudohypoparathyroidism
- RNA, Messenger