Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. [electronic resource]
Producer: 20140408Description: S191-8 p. digitalISSN:- 1573-2665
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) -- genetics
- Alternative Splicing
- Cell Line, Tumor
- Child
- Computational Biology
- DNA Mutational Analysis
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Introns
- Male
- Maple Syrup Urine Disease -- diagnosis
- Phenotype
- Point Mutation
- RNA, Messenger -- metabolism
- Severity of Illness Index
- Transcription, Genetic
- Transfection
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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