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