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Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the corn...

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Bibliografske podrobnosti
izdano v:Clin J Am Soc Nephrol
Main Authors: Savige, Judy, Sheth, Shivanand, Leys, Anita, Nicholson, Anjali, Mack, Heather G., Colville, Deb
Format: Artigo
Jezik:Inglês
Izdano: American Society of Nephrology 2015
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4386265/
https://ncbi.nlm.nih.gov/pubmed/25649157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.10581014
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