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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

CODEN
JMDGAE
ISSN
0022-2593
Scientific domain
Genetics
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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