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Items: 4

1.
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
U Lenkkeri, M Männikkö, P McCready, J Lamerdin, O Gribouval, P M Niaudet, K Antignac C, C E Kashtan, C Homberg, A Olsen, M Kestilä, K Tryggvason
Am J Hum Genet. 1999 Jan; 64(1): 51–61. doi: 10.1086/302182
PMCID:
PMC1377702
SummaryPDF–314K
2.
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families
Yanqin Zhang, Jie Ding, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Xiaoyu Liu, Ke Xu, Fang Wang
Eur J Hum Genet. 2020 Feb; 28(2): 244–252. Published online 2019 Oct 1. doi: 10.1038/s41431-019-0523-1
PMCID:
PMC6974604
AbstractArticlePDF–420K
3.
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
Gemma Bullich, Daniel Trujillano, Sheila Santín, Stephan Ossowski, Santiago Mendizábal, Gloria Fraga, Álvaro Madrid, Gema Ariceta, José Ballarín, Roser Torra, Xavier Estivill, Elisabet Ars
Eur J Hum Genet. 2015 Sep; 23(9): 1192–1199. Published online 2014 Nov 19. doi: 10.1038/ejhg.2014.252
PMCID:
PMC4538209
AbstractArticlePDF–444K
4.
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis – a single-centre experience
Agnieszka Bińczak-Kuleta, Jacek Rubik, Mieczysław Litwin, Małgorzata Ryder, Klaudyna Lewandowska, Olga Taryma-Leśniak, Jeremy S. Clark, Ryszard Grenda, Andrzej Ciechanowicz
Bosn J Basic Med Sci. 2014 May; 14(2): 89–93. doi: 10.17305/bjbms.2014.2270
PMCID:
PMC4333957
AbstractArticlePDF–82K

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