Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
- Author
- KONRAD, M1 ; VOLLMER, M2 ; GUAY-WOODFORD, L5 ; KNOERS, N. V. A. M3 ; SEYBERTH, H. W1 ; FELDMANN, D6 ; HILDEBRANDT, F2 ; LEMMINK, H. H3 ; VAN DEN HEUVEL, L. P. W. J3 ; JECK, N1 ; VARGAS-POUSSOU, R4 ; LAKINGS, A5 ; RUF, R2 ; DESCHENES, G6 ; ANTIGNAC, C4
[1] Department of Pediatrics, Philipps University, Marburg, Germany
[2] Department of Pediatrics, Albert Ludwigs University of Freiburg, Germany
[3] Departments of Pediatrics and Human Genetics, University Hospital Nijmegen, Netherlands
[4] Institut National de la Santé et de la Recherche Médicale U423, Necker Hospital, University of Paris, France
[5] Departments of Medicine and Pediatrics, University of Alabama at Birmingham, Alabama, United States
[6] Departments of Biochemistry and Pediatric Nephrology, Armand-Trousseau Hospital, Paris, France - Source
Journal of the American Society of Nephrology. 2000, Vol 11, Num 8, pp 1449-1459 ; ref : 30 ref
- CODEN
- JASNEU
- ISSN
- 1046-6673
- Scientific domain
- Urology, nephrology
- Publisher
- Lippincott Williams & Wilkins, Hagerstown, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Canal Chlorure Etiologie Gène Homme Mutation Néphropathie juxtaglomérulaire Bartter Phénotype Gène CLCNKB Appareil urinaire pathologie Corticosurrénale pathologie Endocrinopathie Hyperaldostéronisme Hypercorticisme Rein pathologie Surrénale pathologie
- Keyword (en)
- Canal Chlorides Etiology Gene Human Mutation Bartter syndrome Phenotype Urinary system disease Adrenal cortex diseases Endocrinopathy Hyperaldosteronism Hyperadrenocorticism Kidney disease Adrenal gland diseases
- Keyword (es)
- Canal Cloruro Etiología Gen Hombre Mutación Nefropatía yuxtaglomerular Bartter Fenotipo Aparato urinario patología Corticosuprarrenal patología Endocrinopatía Hiperaldosteronismo Hiperadrenocorticismo Riñón patología Suprarrenal patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14A Nephropathies. Renovascular diseases. Renal failure / 002B14A01 Glomerulonephritis
- Discipline
- Nephrology. Urinary tract diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1461481
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
10.1681/ASN.V1181449 
https://dx.doi.org/10.1681/ASN.V1181449
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