Article
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 1 Jun 1992
Schwindinger W F, Francomano C A, Levine M A
Abstract excerpt
McCune-Albright syndrome (MAS) is characterized by polyostotic fibrous dysplasia, café-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The diverse metabolic abnormalities seen in...
Topics
- Adenylyl Cyclases
- Alleles
- Amino Acid Sequence
- Base Sequence
- Enzyme Activation
- Exons
- Fibrous Dysplasia, Polyostotic
- GTP-Binding Proteins
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mosaicism
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction