Korean J Intern Med.
2015 Sep;30(5):730-734. 10.3904/kjim.2015.30.5.730.
A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex
- Affiliations
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- 1Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea. drkhs@catholic.ac.kr
- KMID: 2381573
- DOI: http://doi.org/10.3904/kjim.2015.30.5.730
Abstract
- No abstract available.
Keyword
MeSH Terms
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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
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
Protein Isoforms
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