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Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort

To maximize clinical benefits of genetic screening of patients with nephrotic syndrome (NS) to diagnose monogenic causes, reliably distinguishing NS-causing variants from the background of rare, noncausal variants prevalent in all genomes is vital. To determine the prevalence of monogenic NS in a No...

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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Sampson, Matthew G., Gillies, Christopher E., Robertson, Catherine C., Crawford, Brendan, Vega-Warner, Virginia, Otto, Edgar A., Kretzler, Matthias, Kang, Hyun Min
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4926977/
https://ncbi.nlm.nih.gov/pubmed/26534921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2015050504
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