1.A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex.
Yi Sun JANG ; Sung Dae MOON ; Ju Hee KIM ; Ihn Suk LEE ; Jong Min LEE ; Hye Soo KIM
The Korean Journal of Internal Medicine 2015;30(5):730-734
No abstract available.
Alternative Splicing
;
Biopsy
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Carney Complex/diagnosis/enzymology/*genetics/therapy
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Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/*genetics
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DNA Mutational Analysis
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Genetic Predisposition to Disease
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Humans
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Magnetic Resonance Imaging
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Male
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*Mutation
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Pedigree
;
Phenotype
;
Protein Isoforms
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Tomography, X-Ray Computed
;
Young Adult
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