PMC Links for Nucleotide (Select 542133199) - PMC

Result Filters

Links from Nucleotide

Items: 4

Select item 13777021.

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

Summary PDF–314K

Select item 69746042.

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

Abstract Article PDF–420K

Select item 45382093.

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

Abstract Article PDF–444K

Select item 43339574.

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