Characterization of mutations in the CPO gene in british patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria
- Auteur
- LAMORIL, Jérome1 ; PUY, Hervé1 ; WHATLEY, Sharon D2 ; MARTIN, Caroline1 ; WOOLF, Jacqueline R2 ; DA SILVA, Vasco1 ; DEYBACH, Jean-Charles1 ; ELDER, George H2
[1] Centre Français des Porphyries and INSERM U409, Université Paris VII, Hôpital Louis Mourier, Colombes, France
[2] Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom - Source
American journal of human genetics. 2001, Vol 68, Num 5, pp 1130-1138 ; ref : 1 p.1/4
- Editeur
- University of Chicago Press, Chicago, IL
- Pays de publication
- United States
- Type de document
- Article
- Langue
- English
- Mot clé (fr)
- Anémie hémolytique Coproporphyrie Coproporphyrinogen oxidase Déterminisme génétique Etude familiale Gène Génotype Homme Mutation Néonatal Pathogénie Phénotype Pigment Enzyme Enzymopathie Hémopathie Maladie héréditaire Métabolisme pathologie Nouveau né pathologie Oxidoreductases Peau pathologie Photosensibilité Porphyrie
- Mot clé (en)
- Hemolytic anemia Coproporphyria Coproporphyrinogen oxidase Genetic determinism Family study Gene Genotype Human Mutation Neonatal Pathogenesis Phenotype Pigments Enzyme Enzymopathy Hemopathy Genetic disease Metabolic diseases Newborn diseases Oxidoreductases Skin disease Photosensitivity Porphyria
- Mot clé (es)
- Anemia hemolítica Coproporfiria Coproporphyrinogen oxidase Determinismo genético Estudio familiar Gen Genotipo Hombre Mutación Neonatal Patogenia Fenotipo Pigmento Enzima Enzimopatía Hemopatía Enfermedad hereditaria Metabolismo patología Recién nacido patología Oxidoreductases Piel patología Fotosensibilidad Porfiria
- 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
- 992295
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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