Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation
- Author
- ARAUJO, Rogério S1 ; BILLERBECK, Ana Elisa C1 ; MADUREIRA, Guiomar1 ; MENDONCA, Berenice B1 ; BACHEGA, Tania A. S. S1
[1] Unidade de Endocrinologia do Desenvolvimento e Laboratório de Hormônios e Genética Molecular - LIM/42, Disciplina de Endocrinologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de Sao Paulo, Silo Paulo, Brazil - Source
Clinical endocrinology (Oxford. Print). 2005, Vol 62, Num 2, pp 132-136, 5 p ; ref : 33 ref
- CODEN
- CLECAP
- ISSN
- 0300-0664
- Scientific domain
- Endocrinology
- Publisher
- Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Endocrinologie Génétique Homme Hyperplasie surrénale congénitale syndrome Mutation Promoteur transcription Steroid 21-monooxygenase Substitution Virilisant Corticosurrénale pathologie Endocrinopathie Enzyme Enzymopathie Hypercorticisme Oxidoreductases Surrénale pathologie
- Keyword (en)
- Endocrinology Genetics Human Congenital adrenal hyperplasia syndrome Mutation Transcription promoter Steroid 21-monooxygenase Substitution Virilizing Adrenal cortex diseases Endocrinopathy Enzyme Enzymopathy Hyperadrenocorticism Oxidoreductases Adrenal gland diseases
- Keyword (es)
- Endocrinología Genética Hombre Hiperplasia suprarrenal congénita síndrome Mutación Promotor transcripción Steroid 21-monooxygenase Substitución Virilizante Corticosuprarrenal patología Endocrinopatía Enzima Enzimopatía Hiperadrenocorticismo Oxidoreductases Suprarrenal patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A28 Vertebrates: endocrinology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21B Adrenals. Adrenal axis. Renin-angiotensin system (diseases) / 002B21B01 Non tumoral diseases. Target tissue resistance. Benign neoplasms
- Discipline
- Endocrinopathies Vertebrates : endocrinology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16456386
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
10.1111/j.1365-2265.2005.02184.x 
https://dx.doi.org/10.1111/j.1365-2265.2005.02184.x
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