Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
- Author
- MAGRE, Jocelyne1 ; DELEPINE, Marc2 ; CAPEAU, Jacqueline1 ; KHALLOUF, Eliane3 ; GEDDE-DAHL, Tobias JR4 ; VAN MALDERGEM, Lionel5 ; SOBEL, Eric2 ; PAPP, Jeanette2 ; MEIER, Muriel1 ; MEGARBANE, André6 ; LATHROP, Mark2
[1] INSERM U.402, Faculté de Médecine Saint-Antoine, Université Pierre et Marie Curie, 27 rue Chaligny, 75012 Paris, France
[2] Centre National de Génotypage, Evry, Paris, France
[3] Service de Pédiatrie, Hôtel-Dieu de France, Beyrouth, Lebanon
[4] Institute of Forensic Medicine and Departments of Dermatology, Internal Medicine and Pediatrics, University of Oslo and Rikshospitalet, Oslo, Norway
[5] Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
[6] Université Saint-Joseph, Faculté de Médecine, Unité de Génétique Médicale, Beyrouth, Lebanon
BSCL Working Group - Source
Nature genetics. 2001, Vol 28, Num 4, pp 365-370 ; ref : 30 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Chromosome Congénital Gène Identification Lipodystrophie Peau pathologie Tissu adipeux pathologie
- Keyword (en)
- Chromosome Congenital Gene Identification Lipodystrophy Skin disease Adipose tissue disorders
- Keyword (es)
- Cromosoma Congénito Gen Identificación Lipodistrofia Piel patología Tejido adiposo patología
- 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
- Discipline
- Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14151440
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
10.1038/ng585 
https://dx.doi.org/10.1038/ng585
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