Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion
- Author
- DUNØ, Morten1 ; HOVE, Hanne1 ; KIRCHHOFF, Maria1 ; DEVRIENDT, Koenraad2 ; SCHWARTZ, Marianne1
[1] Department of Clinical Genetics, University Hospital Copenhagen, 4062, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
[2] Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium - Source
Human genetics. 2004, Vol 115, Num 6, pp 459-467, 9 p ; ref : 1 p.1/4
- 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)
- Carte génétique Clone Délétion Génomique Génétique Nombre copie Point cassure Récidivant Aberration chromosomique
- Keyword (en)
- Genetic mapping Clone Deletion Genomics Genetics Copy number Breakpoint Recurrent Chromosomal aberration
- Keyword (es)
- Mapa genético Clona Deleción Genómica Genética Número copia Punto ruptura Recidivante Aberración cromosómica
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C04 Methods, theories and miscellaneous
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16313891
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/s00439-004-1174-y 
https://dx.doi.org/10.1007/s00439-004-1174-y
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