A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α
- Author
- ZAHIR, F. R1 ; BAROSS, A2 ; DELANEY, A. D3 ; EYDOUX, P4 ; FERNANDES, N. D5 ; PUGH, T3 ; MARRA, M. A1 3 ; FRIEDMAN, J. M1
[1] Department of Medical Genetics, University of British Columbia, Vancouver, Canada
[2] Genome British Columbia, Vancouver, Canada
[3] BC Cancer Agency Genome Sciences Center, Vancouver, Canada
[4] Department of Pathology and Laboratory Medicine, Children's and Women's Health Centre of BC, Vancouver, Canada
[5] Faculty of Medicine, University of British Columbia, Vancouver, Canada - Source
Journal of medical genetics. 2008, Vol 45, Num 4, pp 239-243, 5 p ; ref : 30
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- De novo Délétion Génétique Homme Malade Trouble cognitif Vertèbre Aberration chromosomique
- Keyword (en)
- De novo Deletion Genetics Human Patient Cognitive disorder Vertebra Chromosomal aberration
- Keyword (es)
- De novo Deleción Genética Hombre Enfermo Trastorno cognitivo Vértebra Aberración cromosómica
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20199743
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.2007.054437 
https://dx.doi.org/10.1136/jmg.2007.054437
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