Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
- Author
- ROBINS, Tiina1 ; BELLANNE-CHANTELOT, Christine2 ; BARBARO, Michela1 ; CABROL, Sylvie3 ; WEDELL, Anna1 ; LAJIC, Svetlana1
[1] Department of Molecular Medicine and Surgery, Center for Molecular Medicine (CMM) L8:02, Karolinska Institutet/Karolinska University Hospital, 17176 Stockholm, Sweden
[2] Department of Cytogenetics, Hôpital Saint-Antoine-AP-HP, 75012 Paris, France
[3] Department of Paediatric Endocrinology, Hôpital Armand Trousseau, Paris, France - Source
Journal of molecular medicine (Berlin. Print). 2007, Vol 85, Num 3, pp 247-255, 9 p ; ref : 29 ref
- ISSN
- 0946-2716
- Scientific domain
- General medicine general surgery
- Publisher
- Springer, Berlin
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Congenital adrenal hyperplasia (CAH)· CYP21-21-hydroxylase Enzyme assay Mutation
- Keyword (fr)
- Caractérisation Génétique Hydroxylase Hyperplasie surrénale congénitale syndrome Mutation faux sens Médecine Corticosurrénale pathologie Endocrinopathie Enzyme Enzymopathie Hypercorticisme Oxidoreductases Surrénale pathologie
- Keyword (en)
- Characterization Genetics Hydroxylase Congenital adrenal hyperplasia syndrome Missense mutation Medicine Adrenal cortex diseases Endocrinopathy Enzyme Enzymopathy Hyperadrenocorticism Oxidoreductases Adrenal gland diseases
- Keyword (es)
- Caracterización Genética Hydroxylase Hiperplasia suprarrenal congénita síndrome Mutación falso sentido Medicina Corticosuprarrenal patología Endocrinopatía Enzima Enzimopatía Hiperadrenocorticismo Oxidoreductases 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 Generalities in medical sciences
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18648344
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
10.1007/s00109-006-0121-x 
https://dx.doi.org/10.1007/s00109-006-0121-x
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