The Complement Factor H R1210C Mutation Is Associated With Atypical Hemolytic Uremic Syndrome
- Author
- MARTINEZ-BARRICARTE, Ruben1 ; PIANETTI, Gaia2 ; REMUZZI, Giuseppe2 ; DE CORDOBA, Santiago Rodriguez1 ; GAUTARD, Ruxandra3 ; MISSELWITZ, Joachim4 ; STRAIN, Lisa5 ; FREMEAUX-BACCHI, Veronique6 ; SKERKA, Christine7 ; ZIPFEL, Peter F4 7 ; GOODSHIP, Tim5 ; NORIS, Marina2
[1] Centro de Investigaciones Biológicas and Centro de Investigacion Biomedica en Enfermedades Raras, Madrid, Spain
[2] Clinical Research for Rare Diseases, Aldo e Cele Dacco, Mario Negri Institute for Pharmacological Research, Ranica, Italy
[3] Nephrology Department, Bretonneau Hospital, Tours, France
[4] Friedrich Schiller University, Jena, Germany
[5] Institute of Human Genetics, Newcastle upon Tyne University, Central Parkway, Newcastle upon Tyne, United Kingdom
[6] Service d'lmmunologie Biologique, Hôpital Europeen Georges Pompidou, Paris, France
[7] Department of Infection Biology, Hans Knoll Institute for Natural Product Research, Jena, Germany
European Working Party on the Genetics of HUS - Source
Journal of the American Society of Nephrology. 2008, Vol 19, Num 3, pp 639-646, 8 p ; ref : 26 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)
- Aigu Atypique Complément Génétique Hémolyse urémie Microangiopathie thrombohémolytique Mutation Néphrologie Thrombocyte Thrombopénie Urologie Facteur H Anémie hémolytique Hémopathie Insuffisance rénale Pathologie de l'appareil circulatoire Pathologie de l'appareil urinaire Pathologie des vaisseaux sanguins Pathologie du rein
- Keyword (en)
- Acute Atypical Complement Genetics Hemolytic uremic syndrome Thrombohemolytic microangiopathy Mutation Nephrology Platelet Thrombocytopenia Urology Factor H Hemolytic anemia Hemopathy Renal failure Cardiovascular disease Urinary system disease Vascular disease Kidney disease
- Keyword (es)
- Agudo Atípico Complemento Genética Hemólisis urémica Microangiopatía trombohemolítica Mutación Nefrología Trombocito Trombopenia Urología Anemia hemolítica Hemopatía Insuficiencia renal Aparato circulatorio patología Aparato urinario patología Vaso sanguíneo patología Riñón patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14A Nephropathies. Renovascular diseases. Renal failure / 002B14A05 Renal failure
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B19 Hematologic and hematopoietic diseases / 002B19C Platelet diseases and coagulopathies
- Discipline
- Blood diseases Nephrology. Urinary tract diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20176393
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.2007080923 
https://dx.doi.org/10.1681/ASN.2007080923
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