Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence. [electronic resource]
Producer: 20111005Description: 789-95 p. digitalISSN:- 1476-5438
- Adolescent
- Animals
- Cells, Cultured
- Child
- Child, Preschool
- Genetic Diseases, Inborn -- genetics
- Genotype
- HEK293 Cells
- Humans
- Infant
- Mechanistic Target of Rapamycin Complex 1
- Mice
- Multiprotein Complexes
- Mutation -- genetics
- Phenotype
- Phosphorylation -- genetics
- Protein Multimerization -- genetics
- Protein Stability
- Proteins -- metabolism
- TOR Serine-Threonine Kinases
- Tuberous Sclerosis Complex 1 Protein
- Tuberous Sclerosis Complex 2 Protein
- Tumor Suppressor Proteins -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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