Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect
- Auteur
- KAUPPINEN, Raili1 ; TIMONEN, Kaisa2 ; VON UND ZU FRAUNBER, Mikael1 ; LAITINEN, Eila3 ; AHOLA, Helena1 ; TENHUNEN, Raimo3 ; TAKETANI, Shigeru4 ; MUSTAJOKI, Pertti1
[1] Department of Medicine, Division of Diabetology of the University of Helsinki, Finland
[2] Department of Dermatology of the University of Helsinki, Finland; Department of Biotechnology, Kyoto Institute of Technology, Kyoto, Japan
[3] Department of Clinical Chemistry of the University of Helsinki, Finland; Department of Biotechnology, Kyoto Institute of Technology, Kyoto, Japan
[4] Department of Biotechnology, Kyoto Institute of Technology, Kyoto, Japan - Source
Journal of investigative dermatology. 2001, Vol 116, Num 4, pp 610-613 ; ref : 20 ref
- CODEN
- JIDEAE
- ISSN
- 0022-202X
- Domaine scientifique
- Dermatology
- Editeur
- Nature Publishing, Danvers, MA
- Pays de publication
- United States
- Type de document
- Article
- Langue
- English
- Mot clé (fr)
- Biologie moléculaire Etude cas Gène Homme Homozygotie Pigment Porphyria variegata Porphyrine Protoporphyrinogen oxidase Enzyme Maladie héréditaire Métabolisme pathologie Oxidoreductases Peau pathologie Photosensibilité
- Mot clé (en)
- Molecular biology Case study Gene Human Homozygosity Pigments Porphyria variegata Porphyrin Protoporphyrinogen oxidase Enzyme Genetic disease Metabolic diseases Oxidoreductases Skin disease Photosensitivity
- Mot clé (es)
- Biología molecular Estudio caso Gen Hombre Homocigosis Pigmento Porfiria variegata Porfirina Protoporphyrinogen oxidase Enzima Enfermedad hereditaria Metabolismo patología Oxidoreductases Piel patología Fotosensibilidad
- Classification
- Pascal
- 002 Sciences biologiques et medicales / 002B Sciences medicales / 002B22 Maladies metaboliques / 002B22E Autres maladies métaboliques / 002B22E02 Pigments (porphyries, hyperbilirubinémies...)
- Discipline
- Metabolic diseases
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 1004150
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
10.1046/j.1523-1747.2001.01293.x 
https://dx.doi.org/10.1046/j.1523-1747.2001.01293.x
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