Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Background. Recessive mutations in the NPHS1 gene encoding nephrin account for ∼40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days of life. Currently, more than 119 different mutations of NPHS1 have been pub...

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Hlavní autoři: Schoeb, Dominik S., Chernin, Gil, Heeringa, Saskia F., Matejas, Verena, Held, Susanne, Vega-Warner, Virginia, Bockenhauer, Detlef, Vlangos, Christopher N., Moorani, Khemchand N., Neuhaus, Thomas J., Kari, Jameela A., MacDonald, James, Saisawat, Pawaree, Ashraf, Shazia, Ovunc, Bugsu, Zenker, Martin, Hildebrandt, Friedhelm
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2010
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2948833/
https://ncbi.nlm.nih.gov/pubmed/20172850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfq088
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