Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
- Author
- FLODERUS, Y1 ; SHOOLINGIN-JORDAN, P. M2 ; HARPER, P1
[1] Porphyria Centre, Huddinge University Hospital, Stockholm, Sweden
[2] Biochemistry and Molecular Biology, School of Biological Sciences, University of Southampton, Southampton, United Kingdom - Source
Clinical genetics. 2002, Vol 62, Num 4, pp 288-297 ; ref : 51 ref
- Publisher
- Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- acute intermittent porphyria mutation porphobilinogen deaminase structure function relationships
- Keyword (fr)
- Activité enzymatique Aigu Déterminisme génétique Exploration Gène Homme Hydroxymethylbilane synthase Intermittent Mutation Pathogénie Porphyrie Porphyrine Ammonia-lyases Appareil digestif pathologie Carbon-nitrogen lyases Enzyme Lyases Maladie héréditaire Métabolisme pathologie Photosensibilité Système nerveux pathologie
- Keyword (en)
- Enzymatic activity Acute Genetic determinism Exploration Gene Human Hydroxymethylbilane synthase Intermittent Mutation Pathogenesis Porphyria Porphyrin Ammonia-lyases Digestive diseases Carbon-nitrogen lyases Enzyme Lyases Genetic disease Metabolic diseases Photosensitivity Nervous system diseases
- Keyword (es)
- Actividad enzimática Agudo Determinismo genético Exploración Gen Hombre Hydroxymethylbilane synthase Intermitente Mutación Patogenia Porfiria Porfirina Ammonia-lyases Aparato digestivo patología Carbon-nitrogen lyases Enzima Lyases Enfermedad hereditaria Metabolismo patología Fotosensibilidad Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22E Other metabolic disorders / 002B22E02 Pigments (porphyrias, hyperbilirubinemias...)
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 13962412
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
10.1034/j.1399-0004.2002.620406.x 
https://dx.doi.org/10.1034/j.1399-0004.2002.620406.x
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