alport syndrorme

J P Jais B Knebelmann I Giatras M De Marchi G Rizzoni A Renieri M Weber O Gross K O Netzer F Flinter Y Pirson C Verellen J Wieslander U Persson K Tryggvason P Martin J M Hertz C Schröder M Sanak S Krejcova M F Carvalho J Saus C Antignac H Smeets M C Gubler

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease. Considerable allelic heterogeneity has been observed. A "European Community Alport Syndrome Concerted Acti...

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Situs inversus: a rare extrarenal association of Alport's syndrome.

Journal: :Nephron 1994

R Mittal S Saxena R K Hotchandani S K Agarwal S C Tiwari S C Dash

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A monoclonal antibody marker for Alport syndrome identifies the Alport antigen as the α5 chain of type IV collagen

Journal: :Kidney International 1994

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