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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 ; : 730-734, 2015.
Article in English | WPRIM | ID: wpr-76669
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Phenotype / Biopsy / DNA Mutational Analysis / Magnetic Resonance Imaging / Tomography, X-Ray Computed / Alternative Splicing / Genetic Predisposition to Disease / Protein Isoforms / Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Limits: Humans / Male Language: English Journal: The Korean Journal of Internal Medicine Year: 2015 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Phenotype / Biopsy / DNA Mutational Analysis / Magnetic Resonance Imaging / Tomography, X-Ray Computed / Alternative Splicing / Genetic Predisposition to Disease / Protein Isoforms / Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Limits: Humans / Male Language: English Journal: The Korean Journal of Internal Medicine Year: 2015 Type: Article