Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing. [electronic resource]
Producer: 20180730Description: 687-694 p. digitalISSN:- 1472-4146
- Adult
- Aged
- Aged, 80 and over
- Amyloidosis, Familial -- diagnosis
- Cardiomyopathy, Hypertrophic -- diagnosis
- Computational Biology
- Czech Republic
- DNA Mutational Analysis -- methods
- Female
- Gene Expression Profiling -- methods
- Gene Frequency
- Genetic Markers
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Middle Aged
- Mutation
- Phenotype
- Pilot Projects
- Polymorphism, Single Nucleotide
- Predictive Value of Tests
- Reproducibility of Results
- Risk Factors
- Transcriptome
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Publication Type: Journal Article
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