The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
- Author
- GRIBBLE, S. M1 ; PRIGMORE, E1 ; SANDSTROM, R2 ; TEMPLE, I. K3 ; YOUINGS, S. A3 ; THOMAS, N. S3 ; DENNIS, N. R3 ; JACOBS, P. A3 ; CROLLA, J. A3 ; CARTER, N. P1 ; BURFORD, D. C1 ; PORTER, K. M1 ; BEE LING NG1 ; DOUGLAS, E. J1 ; FIEGLER, H1 ; CARR, P1 ; KALAITZOPOULOS, D1 ; CLEGG, S1
[1] The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom
[2] Lower Columbia Pathologists, 1217 14th Avenue, Longview, Washington, United States
[3] Division of Human Genetics, University of Southampton Medical School, Southampton, United Kingdom - Source
Journal of medical genetics. 2005, Vol 42, Num 1, pp 8-16, 9 p ; ref : 38 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Complexe De novo Génétique Homme Malade Phénotype Translocation chromosomique Aberration chromosomique Chromosome anormal
- Keyword (en)
- Complexes De novo Genetics Human Patient Phenotype Chromosome translocation Chromosomal aberration Abnormal chromosome
- Keyword (es)
- Complejo De novo Genética Hombre Enfermo Fenotipo Translocación cromosómica Aberración cromosómica Cromosoma anormal
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B12 Cardiology. Vascular system
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Cardiology. Circulatory system Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16451294
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.2004.024141 
https://dx.doi.org/10.1136/jmg.2004.024141
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