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A novel Val648Ile substitution in RET protooncogene observed in a Cys634arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma

Author
NUNES, Adriana B1 ; EZABELLA, Marilza C. L1 ; PEREIRA, Alexandre C2 ; KRIEGER, José E2 ; TOLEDO, Sergio P. A1
[1] Endocrine Genetics Unit, University of Sao Paulo School of Medicine, 01246-903 Sao Paulo, Brazil
[2] Department of Endocrinology, and Laboratory of Genetics and Molecular Cardiology, University of Sao Paulo School of Medicine, 01246-903 Sao Paulo, Brazil
Source

The Journal of clinical endocrinology and metabolism. 2002, Vol 87, Num 12, pp 5658-5661, 4 p ; ref : 25 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)
Association Déterminisme génétique Etude cas Etude familiale Génotype Homme Phénotype Phéochromocytome Polyadénomatose endocrinienne Protooncogène Endocrinopathie Maladie héréditaire Tumeur sécrétante Tumeur
Keyword (en)
Association Genetic determinism Case study Family study Genotype Human Phenotype Pheochromocytoma Multiple endocrine neoplasia Protooncogene Endocrinopathy Genetic disease Secretory tumor Tumor
Keyword (es)
Asociación Determinismo genético Estudio caso Estudio familiar Genotipo Hombre Fenotipo Feocromocitoma Neoplasia endocrina múltiple Protooncogen Endocrinopatía Enfermedad hereditaria Tumor secretante Tumor
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 / 002B Medical sciences / 002B21 Endocrinopathies / 002B21E Endocrine pancreas. Apud cells (diseases) / 002B21E01 Diabetes. Impaired glucose tolerance / 002B21E01A Etiopathogenesis. Screening. Investigations. Target tissue resistance

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21G General aspects. Associated endocrine diseases. Endocrine paraneoplasic syndromes

Discipline
Endocrinopathies
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
14421594

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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