Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency
- Author
- BACHEGA, T. A. S. S1 ; BILLERBECK, A. E. C1 ; MADUREIRA, G1 ; MARCONDES, J. A. M1 ; LONGUI, C. A2 ; LEITE, M. V3 ; ARNHOLD, I. J. P1 ; MENDONCA, B. B1
[1] Unidade de Endocrinologia do Desenvolvimento e Laboratório de Hormônios e Genética Molecular da Disciplina de Endocrinologia, Hospital das Clinicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01060-970, Brazil
[2] Serviço de Endocrinologia Pediátrica, Departamento de Pediatria da Santa Casa, São Paulo, Brazil
[3] Departamento de Clínica Médica I, Universidade Federal do Rio Grande do Norte, Natal, 59010-180, Brazil - Source
The Journal of clinical endocrinology and metabolism. 1998, Vol 83, Num 12, pp 4416-4419 ; ref : 23 ref
- CODEN
- JCEMAZ
- ISSN
- 0021-972X
- Scientific domain
- Endocrinology; Nutrition, obesity, metabolic disorders
- Publisher
- Endocrine Society, Bethesda, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Déterminisme génétique Etude comparative Forme clinique Gène Génotype Homme Hydroxylase Hyperplasie surrénale congénitale syndrome Mutation ponctuelle Phénotype Brésil Corticosurrénale pathologie Endocrinopathie Enzyme Enzymopathie Hypercorticisme Oxidoreductases Surrénale pathologie Amérique du Sud Amérique
- Keyword (en)
- Genetic determinism Comparative study Clinical form Gene Genotype Human Hydroxylase Congenital adrenal hyperplasia syndrome Point mutation Phenotype Brazil Adrenal cortex diseases Endocrinopathy Enzyme Enzymopathy Hyperadrenocorticism Oxidoreductases Adrenal gland diseases South America America
- Keyword (es)
- Determinismo genético Estudio comparativo Forma clínica Gen Genotipo Hombre Hydroxylase Hiperplasia suprarrenal congénita síndrome Mutación puntual Fenotipo Brasil Corticosuprarrenal patología Endocrinopatía Enzima Enzimopatía Hiperadrenocorticismo Oxidoreductases Suprarrenal patología America del sur America
- Classification
- 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 Tropical medicine
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1617071
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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