Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

We applied customized targeted next-generation exome sequencing (NGS) to determine if mutations in genes associated with renal malformations, Alport syndrome (AS) or nephrotic syndrome are a potential cause of renal abnormalities in patients with equivocal or atypical presentation. We first sequence...

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Detalles Bibliográficos
Autores principales: Chatterjee, Rajshekhar, Hoffman, Mary, Cliften, Paul, Seshan, Surya, Liapis, Helen, Jain, Sanjay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794937/
https://www.ncbi.nlm.nih.gov/pubmed/24130771
http://dx.doi.org/10.1371/journal.pone.0076360

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