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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

Pascal
002 Biological and medical sciences / 235 Tropical medicine

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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