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Structure-Function Studies with the Mitochondrial Carnitine Palmitoyltransferases I and II

✍ Scribed by Gebre Woldegiorgis; Jia Dai; Dennis Arvidson

Publisher
Springer Vienna
Year
2005
Tongue
English
Weight
451 KB
Volume
136
Category
Article
ISSN
0026-9247

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πŸ“œ SIMILAR VOLUMES

Two CPT2 mutations in three Japanese pat
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes
✍ Kaoru Wataya; Jun Akanuma; Patrizia Cavadini; Yoko Aoki; Shigeo Kure; Federica I πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 234 KB πŸ‘ 2 views

## Carnitine palmitoyltransferase II (CPT II) deficiency manifests as two different clinical phenotypes: a muscular form and a hepatic form. We have investigated three nonconsanguineous Japanese patients with CPT II deficiency. Molecular analysis revealed two missense mutations, a glutamate (174)to