Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias
- Author
- GOUYA, Laurent1 ; PUY, Hervé1 2 ; ROBREAU, Anne-Marie1 ; LYOUMI, Said1 ; LAMORIL, Jérome1 ; DA SILVA, Vasco1 ; GRANDCHAMP, Bernard1 ; DEYBACH, Jean-Charles1
[1] Centre Français des Porphyries, INSERM U 409, Faculté X. Bichat, Hôpital Louis Mourier, 178 rue des Renouillers, 92701 Colombes, France
[2] Faculté de Médecine Paris, Ile de France Ouest, 104 Boulevard Raymond Poincaré, 92380 Garches, France - Source
Human genetics. 2004, Vol 114, Num 3, pp 256-262, 7 p ; ref : 24 ref
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Scientific domain
- Biotechnology; Genetics
- Publisher
- Springer, Berlin
/
Springer, Heidelberg
/
Springer, New York, NY
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Allèle Génétique Pigment Porphyrie érythropoïétique Porphyrine Protoporphyrie érythropoïétique Protoporphyrine Appareil digestif pathologie Dermatose bulleuse Enzymopathie Foie pathologie Hémopathie Maladie héréditaire Métabolisme pathologie Oeil pathologie Peau pathologie Photosensibilité
- Keyword (en)
- Allele Genetics Pigments Erythropoietic porphyria Porphyrin Erythropoietic protoporphyria Protoporphyrin Digestive diseases Bullous dermatosis Enzymopathy Hepatic disease Hemopathy Genetic disease Metabolic diseases Eye disease Skin disease Photosensitivity
- Keyword (es)
- Alelo Genética Pigmento Porfiria eritropoyética Porfirina Protoporfiria eritropoyética Protoporfirina Aparato digestivo patología Dermatosis bulosa Enzimopatía Hígado patología Hemopatía Enfermedad hereditaria Metabolismo patología Ojo patología Piel patología Fotosensibilidad
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08E Bullous diseases of the skin
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22E Other metabolic disorders / 002B22E02 Pigments (porphyrias, hyperbilirubinemias...)
- Discipline
- Dermatology Eukaryotes genetics. Biological and molecular evolution Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 15445027
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
10.1007/s00439-003-1059-5 
https://dx.doi.org/10.1007/s00439-003-1059-5
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