Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
- Author
- NISHINO, I1 ; SPINAZZOLA, A1 ; HIRANO, M1
[1] Columbia University College of Physicians and Surgeons, Department of Neurology, 630 West 168 Street, P & S 4-443, New York, NY 10032, United States - Source
Science (Washington, D.C.). 1999, Vol 283, Num 5402, pp 689-692
- CODEN
- SCIEAS
- ISSN
- 0036-8075
- Scientific domain
- Multidisciplinary
- Publisher
- American Association for the Advancement of Science, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Activité enzymatique Carte génétique Chromosome G22 Encéphalopathie mitochondriale Gène Homme Mitochondrie Mutation Myopathie mitochondriale Thymidine phosphorylase MNGIE syndrome Enzyme Enzymopathie Glycosyltransferases Maladie congénitale Maladie héréditaire Muscle strié pathologie Métabolisme pathologie Pentosyltransferases Système nerveux central pathologie Système nerveux pathologie Transferases
- Keyword (en)
- Enzymatic activity Genetic mapping Chromosome G22 Mitochondrial encephalopathy Gene Human Mitochondria Mutation Mitochondrial myopathy Thymidine phosphorylase Enzyme Enzymopathy Glycosyltransferases Congenital disease Genetic disease Striated muscle disease Metabolic diseases Pentosyltransferases Central nervous system disease Nervous system diseases Transferases
- Keyword (es)
- Actividad enzimática Mapa genético Cromosoma G22 Encefalopatía mitocondrial Gen Hombre Mitocondria Mutación Miopatía mitocondrial Thymidine phosphorylase Enzima Enzimopatía Glycosyltransferases Enfermedad congénita Enfermedad hereditaria Músculo estriado patología Metabolismo patología Pentosyltransferases Sistema nervosio central patología Sistema nervioso patología Transferases
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1671911
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1126/science.283.5402.689 
https://dx.doi.org/10.1126/science.283.5402.689
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