Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
Dobrowolski, Steven F
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. [electronic resource] - Human mutation Mar 2005 - 306-13 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; Validation Study
1098-1004
10.1002/humu.20137 doi
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
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. [electronic resource] - Human mutation Mar 2005 - 306-13 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; Validation Study
1098-1004
10.1002/humu.20137 doi
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