Article
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.
Human molecular genetics - 12 Dec 2000
Kirschner L S, Sandrini F, Monbo J, Lin J P, Carney J A, Stratakis C A
Abstract excerpt
Carney complex (CNC) is an autosomal dominant multiple neoplasia syndrome, which has been linked to loci on 2p16 and 17q22-24. We recently reported that PRKAR1A, which codes for the type 1A regulatory subunit of protein kinase A (PKA), is a tumor suppressor gene on chromosome 17 that is mutated in some CNC families. To evaluate the spectrum of PRKAR1A mutations, we identified its genomic structure and screened...
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