Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. [electronic resource]
Producer: 20060516Description: 306-13 p. digitalISSN:- 1098-1004
- Animals
- CHO Cells -- metabolism
- Carnitine -- deficiency
- Child
- Codon, Nonsense
- Cricetinae
- Cricetulus
- DNA Mutational Analysis -- methods
- Diseases in Twins -- genetics
- Exons -- genetics
- Female
- Fibroblasts -- metabolism
- Fluorescent Dyes -- analysis
- Hot Temperature
- Humans
- Infant
- Infant, Newborn
- Introns -- genetics
- Male
- Mutagenesis, Site-Directed
- Mutation, Missense
- Nucleic Acid Denaturation
- Organic Cation Transport Proteins -- genetics
- Point Mutation
- Polymerase Chain Reaction -- methods
- Recombinant Fusion Proteins -- metabolism
- Sequence Analysis, DNA
- Sequence Deletion
- Solute Carrier Family 22 Member 5
- Transfection
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; Validation Study
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