Search for mutations in SLC1A5 (19q13) in cystinuria patients
- Author
- BRAUERS, E1 ; VESTER, U2 ; ZERRES, K1 ; EGGERMANN, T1
[1] Institute of Human Genetics, University Hospital Aachen, Germany
[2] Children's Hospital, University Hospital Essen, Germany - Source
Journal of inherited metabolic disease. 2005, Vol 28, Num 6, pp 1169-1171, 3 p ; ref : 9 ref
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Dordrecht
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Keyword (fr)
- Aminoacidurie Chromosome F19 Cystinurie Génétique Homme Malade Maladie héréditaire Mutation Métabolisme pathologie Nutrition Recherche scientifique Aminoacidopathie Appareil urinaire pathologie Enzymopathie Rein pathologie Tubulopathie
- Keyword (en)
- Aminoaciduria Chromosome F19 Cystinuria Genetics Human Patient Genetic disease Mutation Metabolic diseases Nutrition Scientific research Aminoacid disorder Urinary system disease Enzymopathy Kidney disease Tubulopathy
- Keyword (es)
- Aminoaciduria Cromosoma F19 Cistinuria Genética Hombre Enfermo Enfermedad hereditaria Mutación Metabolismo patología Nutrición Investigación científica Aminoacido alteración Aparato urinario patología Enzimopatía Riñón patología Tubulopatía
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14A Nephropathies. Renovascular diseases. Renal failure / 002B14A03 Tubulopathies
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders
- Discipline
- Medical genetics Metabolic diseases Nephrology. Urinary tract diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17465128
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/s10545-005-0094-x 
https://dx.doi.org/10.1007/s10545-005-0094-x
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