Associated Papers
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
Kim HI et al.
American Journal of Human Genetics, 2020
32640185 (PubMed )
Supplement: 1-s2.0-S000292972030197X-mmc3.pdf
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
Bennett MJ et al.
Molecular Genetics and Metabolism, 2004
Structural model of the catalytic core of carnitine palmitoyltransferase I and carnitine octanoyltransferase (COT): mutation of CPT I histidine 473 and alanine 381 and COT alanine 238 impairs the catalytic activity.
Morillas M et al.
The Journal of Biological Chemistry, 2001
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.
Brown NF et al.
Journal of Lipid Research, 2001
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