Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. [electronic resource]
Producer: 20131017Description: 530-6 p. digitalISSN:- 1365-2141
- Adolescent
- Adult
- Anemia, Diamond-Blackfan -- genetics
- Child
- Child, Preschool
- Codon, Nonsense
- DNA Mutational Analysis
- DNA, Ribosomal -- blood
- Female
- Frameshift Mutation
- Gene Library
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Ribosomal Proteins -- genetics
- Sequence Alignment
- Sequence Analysis, DNA
- Sequence Deletion
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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