Kirschner, L S

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