Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

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 1α of protein kinase A) mutations in CNC. Mutational analyses of the PR...

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Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2004
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC521100/
https://ncbi.nlm.nih.gov/pubmed/15371594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0405535101
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