| A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex |
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Jang, Yi Sun
(Department of Internal Medicine, College of Medicine, The Catholic University of Korea)
Moon, Sung Dae (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) Kim, Ju Hee (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) Lee, Ihn Suk (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) Lee, Jong Min (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) Kim, Hye Soo (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) |
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| 2 | Horvath A, Bertherat J, Groussin L, et al. Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum Mutat 2010;31:369-379. DOI |
| 3 | Cazabat L, Ragazzon B, Groussin L, Bertherat J. PRKAR1A mutations in primary pigmented nodular adreno-cortical disease. Pituitary 2006;9:211-219. DOI |
| 4 | Groussin L, Kirschner LS, Vincent-Dejean C, et al. Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. Am J Hum Genet 2002;71:1433-1442. DOI |
| 5 | Robinson-White A, Meoli E, Stergiopoulos S, et al. PRKAR1A mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex. J Clin Endocrinol Metab 2006;91:2380-2388. DOI |
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