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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype
- Source :
- Journal of inherited metabolic disease, 18(2), 241-244. Springer Netherlands
- Publication Year :
- 1995
- Publisher :
- Wiley, 1995.
- Subjects :
- Adolescent
Mitochondrial disease
Molecular Sequence Data
Mitochondrial trifunctional protein
Biology
Lipid Metabolism, Inborn Errors
Multienzyme Complexes
Genetics
medicine
Humans
Enoyl-CoA Hydratase
Gene
Cells, Cultured
Genetics (clinical)
chemistry.chemical_classification
Base Sequence
Mitochondrial Trifunctional Protein
Homozygote
3-Hydroxyacyl CoA Dehydrogenases
Fibroblasts
Acetyl-CoA C-Acyltransferase
medicine.disease
Phenotype
Molecular biology
3-Hydroxyacyl-CoA Dehydrogenase
Mitochondria
Enzyme
chemistry
Biochemistry
Mutation
Mutation (genetic algorithm)
biology.protein
Female
Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
Subjects
Details
- ISSN :
- 15732665 and 01418955
- Volume :
- 18
- Database :
- OpenAIRE
- Journal :
- Journal of Inherited Metabolic Disease
- Accession number :
- edsair.doi.dedup.....4a8ad21c4290ee9e3d49882dda67e869