Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper.
Smail
D
D
State University of New York at Buffalo, 14209, USA. gdv@acsu.buffalo.edu
Gambino
L
L
Boles
C
C
Vladutiu
G D
GD
D000483:Alleles; D001800:Blood Specimen Collection; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D003365:Costs and Cost Analysis; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing / Q000191:economics; D006801:Humans; D008297:Male; D009154:Mutation; D015345:Oligonucleotide Probes; D010209:Paper; D016133:Polymerase Chain Reaction
D015345:Oligonucleotide Probes; D002334:Carnitine O-Palmitoyltransferase