title: Expanding mutation spectrum in CPT II gene: identification of four novel mutations.
authors.forename: Pushpa Raj
authors.initials: PR
authors.lastname: Joshi
authors.forename: Peter
authors.initials: P
authors.lastname: Young
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
mesh_terms: D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
chemical_list: D002334:Carnitine O-Palmitoyltransferase