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Alport Retinopathy Results from “Severe” COL4A5 Mutations and Predicts Early Renal Failure
Background and objectives: Previous studies of X-linked Alport syndrome demonstrated that “severe” COL4A5 mutations (large deletions and rearrangements, nonsense and frame-shift mutations, and glycine substitutions in the carboxy-terminal residues) were associated with early-onset renal failure, hea...
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| Asıl Yazarlar: | , , , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
American Society of Nephrology
2010
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2801648/ https://ncbi.nlm.nih.gov/pubmed/19965530 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.01030209 |
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