A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex.
Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Yi Sun
YS
Jang
Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Sung Dae
SD
Moon
Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Ju Hee
JH
Kim
Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Ihn Suk
IS
Lee
Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Jong Min
JM
Lee
Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Hye Soo
HS
Kim
D017398:Alternative Splicing; D001706:Biopsy; D056733:Carney Complex / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020033:Protein Isoforms; D014057:Tomography, X-Ray Computed; D055815:Young Adult
D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D020033:Protein Isoforms
Carney complex; PRKAR1A mutation