
Finnish congenital nephrosis is an autosomal recessive disease caused by mutations of the nephrin gene.
| 1. | Koziell A et al. (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.   | 
| 2. | Liu G et al. (2003) Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.   | 
| 3. | Aya K et al. (2000) Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.   | 
| 4. | Beltcheva O et al. (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.   | 
| 5. | Liu L et al. (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.   | 
| 6. | Wartiovaara J et al. (2004) Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography.   | 
| 7. | Jones N et al. (2006) Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes.   | 
| 8. | Lenkkeri U et al. (1999) Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.   | 
| 9. | OMIM.ORG articleOmim 256300   |