A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex.
10.3904/kjim.2015.30.5.730
- Author:
Yi Sun JANG
1
;
Sung Dae MOON
;
Ju Hee KIM
;
Ihn Suk LEE
;
Jong Min LEE
;
Hye Soo KIM
Author Information
1. Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea. drkhs@catholic.ac.kr
- Publication Type:Case Reports ; Letter ; Research Support, Non-U.S. Gov't
- Keywords:
Carney complex;
PRKAR1A mutation
- MeSH:
Alternative Splicing;
Biopsy;
Carney Complex/diagnosis/enzymology/*genetics/therapy;
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/*genetics;
DNA Mutational Analysis;
Genetic Predisposition to Disease;
Humans;
Magnetic Resonance Imaging;
Male;
*Mutation;
Pedigree;
Phenotype;
Protein Isoforms;
Tomography, X-Ray Computed;
Young Adult
- From:The Korean Journal of Internal Medicine
2015;30(5):730-734
- CountryRepublic of Korea
- Language:English
-
Abstract:
No abstract available.
