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]
Producer: 20020820Description: 3-21 p. digitalISSN:- 0077-8923
- 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
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Publication Type: Journal Article; Review
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