Article
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
The New England journal of medicine - 17 May 1990
Patten J L, Johns D R, Valle D, Eil C, Gruppuso P A, Steele G, Smallwood P M, Levine M A
Abstract excerpt
Albright's hereditary osteodystrophy is an autosomal dominant disorder characterized by a short stature, brachydactyly, subcutaneous ossifications, and reduced expression or function of the alpha subunit of the stimulatory G protein (Gs alpha) of adenylate cyclase, which is necessary for the acti...
Topics
- Adenylyl Cyclases
- Amino Acid Sequence
- Base Sequence
- Child
- DNA
- Female
- GTP-Binding Proteins
- Genes
- Genes, Dominant
- Humans
- Immunoblotting
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Pseudohypoparathyroidism