Article
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
Proceedings of the National Academy of Sciences of the United States of America - 28 Sept 2004
Veugelers Mark, Wilkes David, Burton Kimberly, McDermott Deborah A, Song Yan, Goldstein Marsha M, La Perle Krista, Vaughan Carl J, O'Hagan Art, Bennett Kenneth R, Meyer Beat J, Legius Eric, Karttunen Mervi, Norio Reijo, Kaariainen Helena, Lavyne Michael, Neau Jean-Philippe, Richter Gert, Kirali Kaan, Farnsworth Alan, Stapleton Karen, Morelli Peter, Takanashi Yoshinori, Bamforth John-Steven, Eitelberger Franz, Noszian Irene, Manfroi Waldimiro, Powers James, Mochizuki Yoshihiko, Imai Tsuneo, Ko Gary T C, Driscoll Deborah A, Goldmuntz Elizabeth, Edelberg Jay M, Collins Amanda, Eccles Diana, Irvine Alan D, McKnight G Stanley, Basson Craig T
Abstract excerpt
Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by cardiac and extracardiac myxomas in the setting of spotty skin pigmentation and endocrinopathy. We previously identified PRKAR1A (regulatory subunit 1alpha of protein kinase A) mutations in CNC. Mutational analyses of the PRKAR1A gene in 51 unrelated CNC probands now detect mutations in 65%. All mutations, except for one unique...
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