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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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Autores principales: Tan, Rachel, Colville, Deb, Wang, Yan Yan, Rigby, Lin, Savige, Judy
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Nephrology 2010
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Acceso en línea: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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