A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin

[1] Boute N(2000), encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome Nat Genet 24 349-354

[2] Gribouval O(2001)Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis J Am Soc Nephrol 12 2742-2746

[3] Roselli S(2003)Broadening the spectrum of diseases related to podocin mutations J Am Soc Nephrol 14 1278-1286

[4] Benessy F(2002)Serum glomerular permeability activity in patients with podocin mutations ( J Am Soc Nephrol 13 1946-1952

[5] Lee H(1995)) and steroid-resistant nephrotic syndrome Hum Mol Genet 4 2155-2158

[6] Fuchshuber A(2013)Mapping a gene ( Pediatr Nephrol 28 1957-1962

[7] Dahan K(2007)) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis Pediatrics 119 e907-919

[8] Gubler MC(2008)Molecular understanding of the slit diaphragm J Am Soc Nephrol 19 365-371

[9] Niaudet P(1999)Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes ( Kidney Int 56 1481-1491

[10] Antignac C(2003), Hum Mol Genet 12 3397-3405

[1] Boute N(2000), encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome Nat Genet 24 349-354

[2] Gribouval O(2001)Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis J Am Soc Nephrol 12 2742-2746

[3] Roselli S(2003)Broadening the spectrum of diseases related to podocin mutations J Am Soc Nephrol 14 1278-1286

[4] Benessy F(2002)Serum glomerular permeability activity in patients with podocin mutations ( J Am Soc Nephrol 13 1946-1952

[5] Lee H(1995)) and steroid-resistant nephrotic syndrome Hum Mol Genet 4 2155-2158

[6] Fuchshuber A(2013)Mapping a gene ( Pediatr Nephrol 28 1957-1962

[7] Dahan K(2007)) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis Pediatrics 119 e907-919

[8] Gubler MC(2008)Molecular understanding of the slit diaphragm J Am Soc Nephrol 19 365-371

[9] Niaudet P(1999)Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes ( Kidney Int 56 1481-1491

[10] Antignac C(2003), Hum Mol Genet 12 3397-3405