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L. Q. Wu, Hu, J. J., Xue, J. J., and Liang, D. S., Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome, vol. 10, pp. 2517-2522, 2011.
Ahvenainen EK, Hallman N and Hjelt L (1956). Nephrotic syndrome in newborn and young infants. Ann. Paediatr. Fenn. 2: 227-241. PMid:13373132 Fuchshuber A, Niaudet P, Gribouval O, Jean G, et al. (1996). Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population. Pediatr. Nephrol. 10: 135-138. PMid:8703694 Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, et al. (2007). Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119: e907-e919. PMid:17371932 Jones N, Blasutig IM, Eremina V, Ruston JM, et al. (2006). Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes. Nature 440: 818-823. PMid:16525419 Kestilä M, Lenkkeri U, Männikkö M, Lamerdin J, et al. (1998). Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol. Cell 1: 575-582. Khoshnoodi J, Sigmundsson K, Ofverstedt LG, Skoglund U, et al. (2003). Nephrin promotes cell-cell adhesion through homophilic interactions. Am. J. Pathol. 163: 2337-2346. Koziell A, Grech V, Hussain S, Lee G, et al. (2002). Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum. Mol. Genet. 11: 379-388. PMid:11854170 Lenkkeri U, Männikkö M, McCready P, Lamerdin J, et al. (1999). Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am. J. Hum. Genet. 64: 51-61. Liu L, Doné SC, Khoshnoodi J, Bertorello A, et al. (2001). Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Hum. Mol. Genet. 10: 2637-2644. PMid:11726550 Mao J, Zhang Y, Du L, Dai Y, et al. (2007). NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Pediatr. Res. 61: 117-122. PMid:17211152 Norio R (1966). Heredity in the congenital nephrotic syndrome. A genetic study of 57 Finnish families with a review of reported cases. Ann. Paediatr. Fenn. 12: 1-94. Patrakka J, Kestila M, Wartiovaara J, Ruotsalainen V, et al. (2000). Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int. 58: 972-980. PMid:10972661 Schoeb DS, Chernin G, Heeringa SF, Matejas V, et al. (2010). Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol. Dial. Transplant. 25: 2970-2976. PMid:20172850    PMCid:2948833 Shi Y, Ding J, Liu JC, Wang H, et al. (2005). NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. Zhonghua Er Ke Za Zhi 43: 805-809. PMid:16316524 Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, et al. (2002). NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J. Clin. Invest. 110: 1659-1666. PMid:12464671    PMCid:151634