Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing. [electronic resource]
Producer: 20141006Description: 384-91 p. digitalISSN:- 1098-1004
- Alleles
- Calibration
- Child, Preschool
- DNA Mutational Analysis
- Exons
- Female
- Gene Deletion
- Gene Duplication
- Genes, Retinoblastoma
- Genotype
- Germ-Line Mutation
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Infant
- Infant, Newborn
- Male
- Retinoblastoma -- diagnosis
- Retinoblastoma Protein -- genetics
- Sensitivity and Specificity
- Sequence Alignment
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Publication Type: Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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