Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population

Hereditary nephrotic syndrome is caused by mutations in a number of different genes, the most common being NPHS2. The aim of the study was to identify the spectrum of NPHS2 mutations in Polish patients with the disease. A total of 141 children with steroid-resistant nephrotic syndrome (SRNS) were en...

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Main Authors: Lipska, Beata S., Balasz-Chmielewska, Irena, Morzuch, Lucyna, Wasielewski, Kacper, Vetter, Dominika, Borzecka, Halina, Drozdz, Dorota, Firszt-Adamczyk, Agnieszka, Gacka, Ewa, Jarmolinski, Tomasz, Ksiazek, Joanna, Kuzma-Mroczkowska, Elzbieta, Litwin, Mieczyslaw, Medynska, Anna, Silska, Magdalena, Szczepanska, Maria, Tkaczyk, Marcin, Wasilewska, Anna, Schaefer, Franz, Zurowska, Aleksandra, Limon, Janusz
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2013
主題:
Human Genetics • Original Paper
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3721000/
https://ncbi.nlm.nih.gov/pubmed/23645318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-013-0147-z
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