Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
- Author
- BROOKS-WILSON, A1 ; MARCIL, M1 ; LOUBSER, O2 ; OUELETTE, B. F. F2 ; FICHTER, K2 ; ASHBOURNE-EXCOFFON, K. J. D2 ; SENSEN, C. W6 ; SCHERER, S7 ; MOTT, S4 ; DENIS, M4 ; MARTINDALE, D8 ; FROHLICH, J9 ; CLEE, S. M2 ; MORGAN, K5 ; KOOP, B8 ; PIMSTONE, S2 ; KASTELEIN, J. J. P3 ; GENEST, J. JR4 ; HAYDEN, M. R2 ; ZHANG, L.-H1 ; ROOMP, K1 ; VAN DAM, M3 ; LU YU4 ; BREWER, C5 ; COLLINS, J. A1 ; MOLHUIZEN, H. O. F3
[1] Xenon Bioresearch Inc., NRC Innovation Centre, 3250 East Mall, Vancouver, British Columbia, V6T 1W5, Canada
[2] Centre for Molecular Medicine and Therapeutics, Children's and Women's Hospital, University of British Columbia, 950 West 28th Avenue, Vancouver, British Columbia, V5Z 4H4, Canada
[3] Department of Vascular Medicine, G-I, Room 146, Academic Medical Centre, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands
[4] Cardiovascular Genetics cs Laboratory, Clinical Research Institute of Montreal, Montreal, Quebec, H2W 1R7, Canada
[5] Departments of Human Genetics and Medicine, Montreal General Hospital, Room L10-109, McGill University, 1650 CedarAvenue, Montreal, Quebec, H3G 1A4, Canada
[6] Institute for Marine Biosciences, NRC, 1411 Oxford, Street, Halifax, Nova Scotia, B3H 3Z1, Canada
[7] Hospital for Sick Children, University of Toronto, Ontario, M5G 1X8, Canada
[8] Department of Biology, Centre for Environmental Health, University of Victoria, British Columbia, V8W 3N5, Canada
[9] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, V6T 1Z1, Canada - Source
Nature genetics. 1999, Vol 22, Num 4, pp 336-345 ; ref : 50 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Carte génétique Cholestérol Chromosome C9 Déficit Gène Homme Hypocholestérolémie Lipide Lipoprotéine HDL Mutation Protéine membranaire Transport intracellulaire Transporteur ABC Maladie héréditaire Métabolisme pathologie
- Keyword (en)
- Genetic mapping Cholesterol Chromosome C9 Deficiency Gene Human Hypocholesterolemia Lipids Lipoprotein HDL Mutation Membrane protein Intracellular transport ABC transporter Genetic disease Metabolic diseases
- Keyword (es)
- Mapa genético Colesterol Cromosoma C9 Déficiencia Gen Hombre Hipocolesterolemia Lípido Lipoproteina HDL Mutación Proteína membranar Transporte intracelular Transportador ABC Enfermedad hereditaria Metabolismo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1926440
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
10.1038/11905 
https://dx.doi.org/10.1038/11905
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