Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. [electronic resource]
- Nature genetics Sep 2000
- 89-92 p. digital
Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
1061-4036
10.1038/79238 doi
Acromegaly--genetics Alleles Blotting, Western Chromatography, High Pressure Liquid Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 2 Cyclic AMP--metabolism Cyclic AMP-Dependent Protein Kinases--genetics DNA Mutational Analysis DNA, Complementary--metabolism Endocrine Gland Neoplasms--genetics Exons Expressed Sequence Tags Family Health Female Genotype Germ-Line Mutation Homozygote Humans Introns Loss of Heterozygosity Male Microsatellite Repeats Molecular Sequence Data Mutation Myxoma--genetics Neoplasms--genetics Neurilemmoma--genetics Nucleic Acid Heteroduplexes Pedigree Phenotype Polymorphism, Genetic Skin Pigmentation--genetics