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Page 1
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C. Machuca E, et al. J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27. J Am Soc Nephrol. 2010. PMID: 20507940 Free PMC article.
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F; Gesselschaft für Paediatrische Nephrologie (GPN) Study Group. Schoeb DS, et al. Nephrol Dial Transplant. 2010 Sep;25(9):2970-6. doi: 10.1093/ndt/gfq088. Epub 2010 Feb 18. Nephrol Dial Transplant. 2010. PMID: 20172850 Free PMC article.