Article
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
Molecular genetics and metabolism - 1 Aug 1998
Yang B Z, Ding J H, Dewese T, Roe D, He G, Wilkinson J, Day D W, Demaugre F, Rabier D, Brivet M, Roe C
Abstract excerpt
Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three phenotypes, six patients with CPT II deficiency...
Topics
- Adult
- Age of Onset
- Base Sequence
- Carnitine O-Palmitoyltransferase
- Cells, Cultured
- DNA
- DNA Primers
- Genotype
- Humans
- Infant
- Infant, Newborn
- Metabolism, Inborn Errors
- Mitochondria
- Mutation
- Oxidation-Reduction
- Phenotype