A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
- Author
- TOWN, M1 ; JEAN, G2 ; VANT' HOFF, W5 ; ANTIGNAC, C2 ; CHERQUI, S2 ; ATTARD, M1 ; FORESTIER, L2 ; WHITMORE, S. A3 ; CALLEN, D. F3 ; GRIBOUVAL, O2 ; BROYER, M4 ; BATES, G. P1
[1] Division of Medical and Molecular Genetics, United Medical and Dental Schools, 7th. Floor, Guy's Tower, Guy's Hospital, London SE1 9RT, United Kingdom
[2] INSERM U423, Tour Lavoisier, Université René Descartes, 149 rue de Sèvres, 75015 Paris, France
[3] Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Université René Descartes, 149 rue de Sèvres, 75015 Paris, France
[4] Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide, Australia
[5] Nephrourology Unit, Institute of Child Health, University College London Medical School, 30 Guilford Street, London WC1N 1EH, United Kingdom - Source
Nature genetics. 1998, Vol 18, Num 4, pp 319-324 ; ref : 28 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Carte génétique Chromosome E17 Cystine Cystinose Délétion Gène Génétique Homme Lysosome Mutation Néphropathie Protéine membranaire Protéine transport Cystinosine Aminoacidopathie Appareil urinaire pathologie Maladie héréditaire Métabolisme pathologie Rein pathologie
- Keyword (en)
- Genetic mapping Chromosome E17 Cystine Cystinosis Deletion Gene Genetics Human Lysosome Mutation Nephropathy Membrane protein Carrier protein Aminoacid disorder Urinary system disease Genetic disease Metabolic diseases Kidney disease
- Keyword (es)
- Mapa genético Cromosoma E17 Cistina Cistinosis Deleción Gen Genética Hombre Lisosoma Mutación Nefropatía Proteína membranar Proteína transportador Aminoacido alteración Aparato urinario patología Enfermedad hereditaria Metabolismo patología Riñón patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2195647
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/ng0498-319 
https://dx.doi.org/10.1038/ng0498-319
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