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Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

BACKGROUND: Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests within the first 3 months of life. Mutations in the NPHS1 gene encoding nephrin, are a major cause for CNS. Currently, more than 173 different mutations of NPHS1 have been published as causing CNS, affect...

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Dettagli Bibliografici
Pubblicato in:Nephron Clin Pract
Autori principali: Ovunc, Bugsu, Ashraf, Shazia, Vega-Warner, Virginia, Bockenhauer, Detlef, Elshakhs, Neveen A Soliman, Joseph, Mark, Hildebrandt, Friedhelm
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593135/
https://ncbi.nlm.nih.gov/pubmed/22584503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000337379
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