Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper

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Bibliographische Detailangaben
Veröffentlicht in:	Clinical chemistry (Baltimore, Md.) Md.), 1999-11, Vol.45 (11), p.2035-2038
Hauptverfasser:	SMAIL, D, GAMBINO, L, BOLES, C, VLADUTIU, G. D
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Biological and medical sciences Blood Specimen Collection Carnitine O-Palmitoyltransferase - deficiency Carnitine O-Palmitoyltransferase - genetics Chromatography, High Pressure Liquid Costs and Cost Analysis DNA Mutational Analysis Errors of metabolism Female Genetic Testing - economics Humans Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Mutation Oligonucleotide Probes Polymerase Chain Reaction
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