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1.
Figure 2

Figure 2. From: Mutations and Polymorphisms in the Gene Encoding Regulatory Subunit Type 1-alpha of Protein Kinase A (PRKAR1A): An Update.

Quantitative schematic representation of the expressed vs NMD mutations in PRKAR1A.

Anélia Horvath, et al. Hum Mutat. ;31(4):369-379.
2.
Figure 1

Figure 1. From: Mutations and Polymorphisms in the Gene Encoding Regulatory Subunit Type 1-alpha of Protein Kinase A (PRKAR1A): An Update.

Schematic presentation of the type and the approximate location of the 117 identified to date mutations in PRKAR1A; a large deletion eliminating the whole PRKAR1A together with 13 more genes (2.3Mb del 17q24.2-q24.3) is also shown. The docking/dimerisation, the linker and the two cAMP functional domains (from left to right) of the protein are denoted with ovals.

Anélia Horvath, et al. Hum Mutat. ;31(4):369-379.
3.
Figure 3

Figure 3. From: Mutations and Polymorphisms in the Gene Encoding Regulatory Subunit Type 1-alpha of Protein Kinase A (PRKAR1A): An Update.

Mutation detection rate among CNC patients A) soon after the identification of PRKAR1A as a gene responsible for the disease phenotype, and, B) after the most recent analyses. The mutation detection rate increased from ~50 (2000) to above 62% (2009), and, in addition, genetic defect in PDE11A and PDE8B were identified in a phenotypic subgroup of initially recognized as CNC patients.

Anélia Horvath, et al. Hum Mutat. ;31(4):369-379.

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