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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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