The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism
- Author
- BIEBERMANN, Heike1 ; SCHONEBERG, Torsten2 ; HESS, Claudia3 ; GERMAK, John4 ; GUDERMANN, Thomas3 ; GRÜTERS, Annette1
[1] Otto Heubner Centrum für Kinderheilkunde und Jugendmedizin, Pädiatrische Endokrinologie; Charité Campus Virchow Klinikum, Humboldt Universität zu Berlin, 13353 Berlin, Germany
[2] Institut für Pharmakologie, Universitätsklinikum Benjamin Franklin, Freie Universität Berlin, 14195 Berlin, Germany
[3] Institut für Pharmakologie und Toxikologie, Fachbereich Humanmedizin, Philipps Universität Marburg, 35033 Marburg, Germany
[4] Division of Endocrinology, Department of Pediatrics, Ohio State University, Columbus, Ohio 43205, United States - Source
The Journal of clinical endocrinology and metabolism. 2001, Vol 86, Num 9, pp 4429-4433 ; ref : 20 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 Etiologie Etude familiale Homme Hyperthyroïdie Mutation Récepteur hormonal TSH Endocrinopathie Hormone adénohypophysaire Hormone glycoprotéine Thyroïde pathologie
- Keyword (en)
- Genetic determinism Etiology Family study Human Hyperthyroidism Mutation Hormonal receptor Thyroid stimulating hormone Endocrinopathy Adenohypophyseal hormone Glycoprotein hormone Thyroid diseases
- Keyword (es)
- Determinismo genético Etiología Estudio familiar Hombre Hipertiroidismo Mutación Receptor hormonal TSH Endocrinopatía Hormona adenohipofisaria Hormona glicoproteína Tiroides patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21C Thyroid. Thyroid axis (diseases) / 002B21C01 Non tumoral diseases. Target tissue resistance. Benign neoplasms
- Discipline
- Endocrinopathies
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14128432
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
10.1210/jcem.86.9.7888 
https://dx.doi.org/10.1210/jcem.86.9.7888
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