Homozygous variegate porphyria : a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene
- Author
- PALMER, R. A1 ; ELDER, G. H2 ; BARRETT, D. F1 ; KEOHANE, S. G1
[1] Department of Dermatology, St Mary's Hospital, Portsmouth P03 6AD, United Kingdom
[2] Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, United Kingdom - Source
British journal of dermatology (1951). 2001, Vol 144, Num 4, pp 866-869 ; ref : 16 ref
- CODEN
- BJDEAZ
- ISSN
- 0007-0963
- Scientific domain
- Dermatology
- Publisher
- Blackwell, Edinburgh
/
Blackwell, London
/
Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Etude cas Etude familiale Gène Génétique Homme Homozygotie Mutation Pigment Porphyria variegata Porphyrine Protoporphyrinogen oxidase Enzyme Maladie héréditaire Métabolisme pathologie Oxidoreductases Peau pathologie Photosensibilité
- Keyword (en)
- Case study Family study Gene Genetics Human Homozygosity Mutation Pigments Porphyria variegata Porphyrin Protoporphyrinogen oxidase Enzyme Genetic disease Metabolic diseases Oxidoreductases Skin disease Photosensitivity
- Keyword (es)
- Estudio caso Estudio familiar Gen Genética Hombre Homocigosis Mutación Pigmento Porfiria variegata Porfirina Protoporphyrinogen oxidase Enzima Enfermedad hereditaria Metabolismo patología Oxidoreductases Piel patología Fotosensibilidad
- 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
- 987434
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.1365-2133.2001.04147.x 
https://dx.doi.org/10.1046/j.1365-2133.2001.04147.x
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