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COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome

Background: Autosomal forms of Alport syndrome represent 20% of all patients (15% recessive and 5% dominant). They are caused by mutations in the COL4A3 and COL4A4 genes, which encode a-3 and a-4 collagen IV chains of the glomerular basement membrane, cochlea and eye. Thin basement membrane nephropa...

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Dettagli Bibliografici
Pubblicato in:Int J Mol Epidemiol Genet
Autori principali: Rosado, Consolación, Bueno, Elena, Felipe, Carmen, González-Sarmiento, Rogelio
Natura: Artigo
Lingua:Inglês
Pubblicazione: e-Century Publishing Corporation 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4348702/
https://ncbi.nlm.nih.gov/pubmed/25755845
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