Mutational spectrum of the TSC 1 gene in a cohort of 225 tuberous sclerosis complex patients : no evidence for genotype-phenotype correlation
- Author
- VAN SLEGTENHORST, M1 ; VERHOEF, S1 ; VAN DEN OUWELAND, A1 ; TEMPELAARS, A1 ; BAKKER, L1 ; QI WANG1 ; WESSELS, M1 ; BAKKER, R1 ; NELLIST, M1 ; LINDHOUT, D1 ; HALLEY, D1
[1] MGC Department of Clinical Genetics, Erasmus University, 3015 GE Rotterdam, Netherlands - Source
Journal of medical genetics. 1999, Vol 36, Num 4, pp 285-289 ; ref : 34 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Déterminisme génétique Génotype Homme Mutation Pathogénie Phacomatose Bourneville Phénotype Maladie héréditaire Système nerveux pathologie Tumeur
- Keyword (en)
- Genetic determinism Genotype Human Mutation Pathogenesis Bourneville syndrome Phenotype Genetic disease Nervous system diseases Tumor
- Keyword (es)
- Determinismo genético Genotipo Hombre Mutación Patogenia Facomatosis Bourneville Fenotipo Enfermedad hereditaria Sistema nervioso patología Tumor
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17E Tumors of the nervous system. Phacomatoses
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1759909
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
10.1136/jmg.36.4.285 
https://dx.doi.org/10.1136/jmg.36.4.285
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