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Glomerular pathology in Alport syndrome: a molecular perspective

We have known for some time that mutations in the genes encoding 3 of the 6 type IV collagen chains are the underlying defect responsible for both X-linked (where the COL4A5 gene is involved) and autosomal (where either COL4A3 or COL4A4 genes are involved) Alport syndrome. The result of these mutati...

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Détails bibliographiques
Auteur principal: Cosgrove, Dominic
Format: Artigo
Langue:Inglês
Publié: 2011
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484979/
https://ncbi.nlm.nih.gov/pubmed/21455721
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-011-1868-z
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