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Genotype–Phenotype Correlation in X-Linked Alport Syndrome

Mutations in the COL4A5 gene cause X-linked Alport syndrome (XLAS). Understanding the correlation between clinical manifestations and the underlying mutations adds prognostic value to genetic testing, which is increasingly available. Our aim was to determine the association between genotype and phen...

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Detalhes bibliográficos
Main Authors: Bekheirnia, Mir Reza, Reed, Berenice, Gregory, Martin C., McFann, Kim, Shamshirsaz, Alireza Abdollah, Masoumi, Amirali, Schrier, Robert W.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2865738/
https://ncbi.nlm.nih.gov/pubmed/20378821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2009070784
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