No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations
نویسندگان
چکیده
منابع مشابه
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.
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 ...
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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset steroid-resistant nephrotic syndrome in European populations. Genotype-phenotype correlations are not well understood in non-Finnish patients. We evaluated the clinical presenta...
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ژورنال
عنوان ژورنال: Pediatric Nephrology
سال: 2004
ISSN: 0931-041X,1432-198X
DOI: 10.1007/s00467-004-1629-3