Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
- Author
- GOUYA, Laurent1 2 ; MARTIN-SCHMITT, Caroline1 2 3 ; PUY, Hervé1 2 3 ; DEYBACH, Jean-Charles1 2 ; ROBREAU, Anne-Marie1 2 ; AUSTERLITZ, Frédéric4 ; DA SILVA, Vasco1 2 ; BRUN, Patrick5 ; SIMONIN, Sylvie1 ; LYOUMI, Said2 ; GRANDCHAMP, Bernard6 ; BEAUMONT, Carole2
[1] INSERM Unité 656, Faculté de Médecine Xavier Bichat, Université Paris VII, France
[2] Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France
[3] Faculté de Médecine Paris lie de France Quest, Garches, France
[4] Laboratoire Ecologie, Systématique et Evolution, Université Paris Sud, Orsay, France
[5] Service d'Accueil des Urgences, Hôpital Louis Mourier, Colombes, France
[6] Service de Biochimie Hormonale et Genetique, Hôpital Xavier Bichat, Paris, France - Source
American journal of human genetics. 2006, Vol 78, Num 1, pp 2-14, 13 p ; ref : 1 p.1/4
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Déterminisme génétique Génétique Homme Pathogénie Pigment Polymorphisme mononucléotide Protoporphyrie érythropoïétique Protoporphyrine Prédisposition Appareil digestif pathologie Enzymopathie Foie pathologie Maladie héréditaire Métabolisme pathologie Peau pathologie Photosensibilité
- Keyword (en)
- Genetic determinism Genetics Human Pathogenesis Pigments Single nucleotide polymorphism Erythropoietic protoporphyria Protoporphyrin Predisposition Digestive diseases Enzymopathy Hepatic disease Genetic disease Metabolic diseases Skin disease Photosensitivity
- Keyword (es)
- Determinismo genético Genética Hombre Patogenia Pigmento Polimorfismo mononucleótido Protoporfiria eritropoyética Protoporfirina Predisposición Aparato digestivo patología Enzimopatía Hígado patología Enfermedad hereditaria Metabolismo patología Piel patología Fotosensibilidad
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08J Skin involvement in other diseases. Miscellaneous. General aspects
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22E Other metabolic disorders / 002B22E02 Pigments (porphyrias, hyperbilirubinemias...)
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Dermatology Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17417745
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
10.1086/498620 
https://dx.doi.org/10.1086/498620
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