Quantifying prion disease penetrance using large population control cohorts
Copyright policy )Quantifying prion disease penetrance using large population control cohorts
Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.
- Erasmus University Rotterdam Netherlands
- Massachusetts General Hospital United States
- Utrecht University Netherlands
- Sorbonne Paris Cité France
- University of Edinburgh United Kingdom
PROTEIN GENE MUTATION, EMC NIHES-01-64-01, CREUTZFELDT-JAKOB-DISEASE, Prions, 610, Penetrance, Research & Experimental Medicine, AMYLOID PRECURSOR GENE, PRNP GENE, R208H MUTATION, Prion Diseases, Cohort Studies, STRAUSSLER-SCHEINKER-DISEASE, Risk Factors, Humans, Genetic Predisposition to Disease, TRANSGENIC MOUSE MODEL, Science & Technology, FATAL FAMILIAL INSOMNIA, Exome Aggregation Consortium (ExAC), Research & Experimental, CREUTZFELDT-JAKOB-DISEASE; STRAUSSLER-SCHEINKER-DISEASE; PROTEIN GENE MUTATION; FATAL FAMILIAL INSOMNIA; UNCOMMON POLYMORPHISM RATHER; TRANSGENIC MOUSE MODEL; AMYLOID PRECURSOR GENE; PRNP GENE; POINT MUTATION; R208H MUTATION, Cell Biology, 11 Medical And Health Sciences, 06 Biological Sciences, POINT MUTATION, Medicine, Research & Experimental, Case-Control Studies, UNCOMMON POLYMORPHISM RATHER, Mutation, Medicine, EMC MM-01-39-09-A, Life Sciences & Biomedicine
PROTEIN GENE MUTATION, EMC NIHES-01-64-01, CREUTZFELDT-JAKOB-DISEASE, Prions, 610, Penetrance, Research & Experimental Medicine, AMYLOID PRECURSOR GENE, PRNP GENE, R208H MUTATION, Prion Diseases, Cohort Studies, STRAUSSLER-SCHEINKER-DISEASE, Risk Factors, Humans, Genetic Predisposition to Disease, TRANSGENIC MOUSE MODEL, Science & Technology, FATAL FAMILIAL INSOMNIA, Exome Aggregation Consortium (ExAC), Research & Experimental, CREUTZFELDT-JAKOB-DISEASE; STRAUSSLER-SCHEINKER-DISEASE; PROTEIN GENE MUTATION; FATAL FAMILIAL INSOMNIA; UNCOMMON POLYMORPHISM RATHER; TRANSGENIC MOUSE MODEL; AMYLOID PRECURSOR GENE; PRNP GENE; POINT MUTATION; R208H MUTATION, Cell Biology, 11 Medical And Health Sciences, 06 Biological Sciences, POINT MUTATION, Medicine, Research & Experimental, Case-Control Studies, UNCOMMON POLYMORPHISM RATHER, Mutation, Medicine, EMC MM-01-39-09-A, Life Sciences & Biomedicine
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