An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia
- Author
- LAJIC, S1 ; WEDELL, A
[1] Department of Woman and Child Health, Karolinska Hospital, 171 76 Stockholm, Sweden - Source
Human genetics. 1996, Vol 98, Num 2, pp 182-184 ; ref : 20 ref
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Scientific domain
- Biotechnology; Genetics
- Publisher
- Springer, Berlin
/
Springer, Heidelberg
/
Springer, New York, NY
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cytochrome P450 Déficit Epissage Gène Génétique Homme Hyperplasie surrénale congénitale syndrome Mutation non sens Steroid 21-monooxygenase Corticosurrénale pathologie Endocrinopathie Enzyme Enzymopathie Hypercorticisme Oxidoreductases Surrénale pathologie
- Keyword (en)
- Cytochrome P450 Deficiency Splicing Gene Genetics Human Congenital adrenal hyperplasia syndrome Nonsense mutation Steroid 21-monooxygenase Adrenal cortex diseases Endocrinopathy Enzyme Enzymopathy Hyperadrenocorticism Oxidoreductases Adrenal gland diseases
- Keyword (es)
- Citocromo P450 Déficiencia Empalme Gen Genética Hombre Hiperplasia suprarrenal congénita síndrome Mutación sin sentido Steroid 21-monooxygenase 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) / 002B21B02 Malignant tumors
- Discipline
- Endocrinopathies
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3160512
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/s004390050186 
https://dx.doi.org/10.1007/s004390050186
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