The genetic and functional basis of isolated 17,20-lyase deficiency
- Author
- GELLER, D. H1 ; AUCHUS, R. J1 ; MENDONCA, B. B2 ; MILLER, W. L1
[1] Department of Pediatrics and the Metabolic Research Unit, University of California-San Francisco, San Francisco, California 94143-0978, United States
[2] Department of Endocrinology, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil - Source
Nature genetics. 1997, Vol 17, Num 2, pp 201-205 ; ref : 31 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Activité enzymatique Biosynthèse Cytochrome P450 Déficit Génétique Homme Pseudohermaphrodisme mâle Steroid 17α-monooxygenase Stéroïdogenèse Testostérone Anomalie différenciation sexuelle Cytochrome CYP17 Steroid 17,20-lyase Androgène Appareil génital mâle pathologie Endocrinopathie Enzyme Enzymopathie Hormone stéroïde sexuelle Hormone testiculaire Maladie congénitale Malformation Oxidoreductases
- Keyword (en)
- Enzymatic activity Biosynthesis Cytochrome P450 Deficiency Genetics Human Male pseudohermaphroditism Steroid 17α-monooxygenase Steroidogenesis Testosterone Sexual differentiation anomaly Androgen Male genital diseases Endocrinopathy Enzyme Enzymopathy Sex steroid hormone Testicular hormone Congenital disease Malformation Oxidoreductases
- Keyword (es)
- Actividad enzimática Biosíntesis Citocromo P450 Déficiencia Genética Hombre Seudohermafroditismo masculino Steroid 17α-monooxygenase Esteroidogénesis Testosterona Andrógeno Aparato genital macho patología Endocrinopatía Enzima Enzimopatía Hormona esteroide sexual Hormona testicular Enfermedad congénita Malformación Oxidoreductases
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20B Male genital diseases / 002B20B01 Non tumoral diseases
- Discipline
- Gynecology. Andrology. Obstetrics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2847206
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
10.1038/ng1097-201 
https://dx.doi.org/10.1038/ng1097-201
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