Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing. [electronic resource]
Producer: 20140519Description: 249-55 p. digitalISSN:- 1879-1484
- Alternative Splicing
- Base Sequence
- Cohort Studies
- Computational Biology
- DNA Primers -- genetics
- Exons
- Gene Deletion
- Genomics
- Haplotypes
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Hyperlipoproteinemia Type II -- genetics
- Microsatellite Repeats -- genetics
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Receptors, LDL -- genetics
- Recombination, Genetic
- Semiconductors
- Sequence Analysis, DNA -- methods
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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