Mutations in the COL4A4 gene in thin basement membrane disease
- Author
- BUZZA, Mark; DAGHER, Hayat; YAN YAN WANG; WILSON, Diane; BABON, Jeffrey J; COTTON, Richard G; SAVIGE, Judy
Genomic Disorders Research Centre, St Vincent's Hospital, Fitzroy, Australia
University of Melbourne, Department of Medicine, Austin and Repatriation Medical Centre, Heidelberg, Germany - Source
Kidney international. 2003, Vol 63, Num 2, pp 447-453, 7 p ; ref : 41 ref
- CODEN
- KDYIA5
- ISSN
- 0085-2538
- Scientific domain
- Urology, nephrology
- Publisher
- Nature Publishing, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- R1377X mutation S969X mutation benign familial hematuria dysmorphic red blood cells familial glomerulonephritis gene mutations hematuria heredity
- Keyword (fr)
- Alport syndrome Biopsie Codon Diagnostic Gène Homme Hématurie Hémorragie Lame basale Mutation Pathogénie Rein Gène S969X Anatomopathologie Appareil urinaire pathologie Maladie héréditaire Néphropathie glomérulaire Rein pathologie
- Keyword (en)
- Alport syndrome Biopsy Codon Diagnosis Gene Human Hematuria Hemorrhage Basement membrane Mutation Pathogenesis Kidney Anatomic pathology Urinary system disease Genetic disease Glomerulonephritis Kidney disease
- Keyword (es)
- Alport síndrome Biopsia Codón Diagnóstico Gen Hombre Hematuria Hemorragia Lámina basal Mutación Patogenia Riñón Anatomía patológica Aparato urinario patología Enfermedad hereditaria Nefropatía glomerular Riñón 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
- 15135534
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
10.1046/j.1523-1755.2003.00780.x 
https://dx.doi.org/10.1046/j.1523-1755.2003.00780.x
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