Absence of common trifunctional protein mutation in patients with Alpers disease

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Veröffentlicht in:	Journal of inherited metabolic disease 1997-11, Vol.20 (6), p.828-830
Hauptverfasser:	Yang, Z., Youil, R., Thorburn, D., Chow, C. W., Cotton, R. G. H., Baldwin, G. S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Cells, Cultured Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Deoxyribonucleases, Type II Site-Specific - metabolism Diffuse Cerebral Sclerosis of Schilder - genetics DNA - analysis DNA - metabolism Fatty Acids - metabolism Fibroblasts - metabolism Humans Medical sciences Mitochondrial Trifunctional Protein Multienzyme Complexes - genetics Mutation Neurology Oxidation-Reduction Palmitic Acid - metabolism
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