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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Chatterjee, Rajshekhar, Hoffman, Mary, Cliften, Paul, Seshan, Surya, Liapis, Helen, Jain, Sanjay
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2013
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3794937/
https://ncbi.nlm.nih.gov/pubmed/24130771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0076360
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg