Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia
- Author
- ROBINS, Tiina1 ; BARBARO, Michela1 ; LAJIC, Svetlana1 ; WEDELL, Anna1
[1] Department of Molecular Medicine, Center of Molecular Medicine, Karolinska Institutet/Karolinska University Hospital, 171 76 Stockholm, Sweden - Source
The Journal of clinical endocrinology and metabolism. 2005, Vol 90, Num 4, pp 2148-2153, 6 p ; ref : 57 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)
- Aigu Aminoacide Endocrinologie Génétique Homme Hyperplasie surrénale congénitale syndrome Mutation Substitution Corticosurrénale pathologie Endocrinopathie Enzymopathie Hypercorticisme Hémopathie maligne Lymphoprolifératif syndrome Surrénale pathologie
- Keyword (en)
- Acute Aminoacid Endocrinology Genetics Human Congenital adrenal hyperplasia syndrome Mutation Substitution Adrenal cortex diseases Endocrinopathy Enzymopathy Hyperadrenocorticism Malignant hemopathy Lymphoproliferative syndrome Adrenal gland diseases
- Keyword (es)
- Agudo Aminoácido Endocrinología Genética Hombre Hiperplasia suprarrenal congénita síndrome Mutación Substitución Corticosuprarrenal patología Endocrinopatía Enzimopatía Hiperadrenocorticismo Hemopatía maligna Linfoproliferativo síndrome Suprarrenal patología
- 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
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16687271
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/jc.2004-1937 
https://dx.doi.org/10.1210/jc.2004-1937
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