TY  - GEN
AU  - Dobrowolski,Steven F
AU  - McKinney,Jason T
AU  - Amat di San Filippo,Cristina
AU  - Giak Sim,Keow
AU  - Wilcken,Bridget
AU  - Longo,Nicola
TI  - Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene
SN  - 1098-1004
PY  - 2006///0516
KW  - Animals
KW  - CHO Cells
KW  - metabolism
KW  - Carnitine
KW  - deficiency
KW  - Child
KW  - Codon, Nonsense
KW  - Cricetinae
KW  - Cricetulus
KW  - DNA Mutational Analysis
KW  - methods
KW  - Diseases in Twins
KW  - genetics
KW  - Exons
KW  - Female
KW  - Fibroblasts
KW  - Fluorescent Dyes
KW  - analysis
KW  - Hot Temperature
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Introns
KW  - Male
KW  - Mutagenesis, Site-Directed
KW  - Mutation, Missense
KW  - Nucleic Acid Denaturation
KW  - Organic Cation Transport Proteins
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Recombinant Fusion Proteins
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
KW  - Solute Carrier Family 22 Member 5
KW  - Transfection
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; Validation Study
UR  - https://doi.org/10.1002/humu.20137
ER  -