Advances in Alport syndrome diagnosis using next-generation sequencing

Alport syndrome (ATS) is a hereditary nephropathy often associated with sensorineural hypoacusis and ocular abnormalities. Mutations in the COL4A5 gene cause X-linked ATS. Mutations in COL4A4 and COL4A3 genes have been reported in both autosomal recessive and autosomal dominant ATS. The conventional...

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Autors principals: Artuso, Rosangela, Fallerini, Chiara, Dosa, Laura, Scionti, Francesca, Clementi, Maurizio, Garosi, Guido, Massella, Laura, Epistolato, Maria Carmela, Mancini, Roberta, Mari, Francesca, Longo, Ilaria, Ariani, Francesca, Renieri, Alessandra, Bruttini, Mirella
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234521/
https://ncbi.nlm.nih.gov/pubmed/21897443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.164
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