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Article

Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.

Genetics and molecular research : GMR - 23 Jan 2015

Fu R, Gou M F, Ma W H, He J J, Luan Y, Liu J

Abstract excerpt

Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age. It is characterized by early onset and progresses to end-stage renal disease. Recently, several genes associated with CNS have been identified, including NPHS1 and NPHS2. Mutations in the NPHS1 gene have been identified in patients with CNS in Finland with relatively high frequency. Thus...

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Identifiers

PMID: 25729976
DOI: 10.4238/2015.January.23.17

Genes

NPHS1
NPHS2

Variants

Provenance

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