Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).

Stratakis, Constantine A

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex). [electronic resource] - Annals of the New York Academy of Sciences Jun 2002 - 3-21 p. digital

Publication Type: Journal Article; Review

0077-8923

10.1111/j.1749-6632.2002.tb04323.x doi


Chromosomes, Human, Pair 17--genetics
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
Cyclic AMP-Dependent Protein Kinase Type II
Cyclic AMP-Dependent Protein Kinases--genetics
Female
Genes, Dominant
Humans
Male
Multiple Endocrine Neoplasia--enzymology
Myxoma--enzymology
Neurilemmoma--enzymology
Pedigree
Phenotype
Pigmentation Disorders--enzymology
Protein Subunits
Syndrome