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Title

Aspects cliniques et génétiques du syndrome d’Alport

Authors
Golshayan, D
Venetz, J P
Cachat, F
Fellmann, F
Burnier, M
Barbey, F
Published in Revue médicale suisse. 2006, vol. 2, no. 55, p. 593-8
Abstract Microscopic haematuria of glomerular origin, without known aetiology, should raise the suspicion of Alport Syndrome IASI in children as well as in adults. The genetic mutations causing AS lie in the genes encoding for the alpha3, alpha4 and alpha5 chains of the collagen type IV, the main constituent of glomerular basement membranes (GBM). The various mutations and modes of transmission of the disease account for the heterogeneous clinical presentations. No specific treatment of AS is currently available. However, a better understanding of the GBM's ultrastructure, in particular of type IV collagen, will hopefully enable the identification of novel therapeutic targets.
Keywords Decision TreesFemaleHumansMaleNephritis, Hereditary/diagnosis/geneticsPedigree
Identifiers
PMID: 16562603
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Research group Analyse protéomique et Analyse génomique des maladies rénales (659)
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GOLSHAYAN, D et al. Aspects cliniques et génétiques du syndrome d’Alport. In: Revue médicale suisse, 2006, vol. 2, n° 55, p. 593-8. https://archive-ouverte.unige.ch/unige:40734

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Deposited on : 2014-10-07

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