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A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

Background: Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive and...

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Bibliografiset tiedot
Päätekijät: Uzak, Asli Subasioglu, Tokgoz, Bulent, Dundar, Munis, Tekin, Mustafa
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Mary Ann Liebert, Inc. 2013
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3582275/
https://ncbi.nlm.nih.gov/pubmed/23297803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2012.0340
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