Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene. [electronic resource]
Producer: 20161018ISSN:- 1422-0067
- Alternative Splicing
- Amidohydrolases -- chemistry
- Base Sequence
- Catalytic Domain
- Child
- Exons
- Female
- Gene Expression
- Genetic Vectors -- chemistry
- HEK293 Cells
- Heterozygote
- Humans
- Infant
- Introns
- Metabolism, Inborn Errors -- enzymology
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Protein Structure, Secondary
- RNA Precursors -- genetics
- Recombinant Proteins -- chemistry
- Sequence Alignment
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Publication Type: Case Reports; Journal Article
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