A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family
نویسندگان
چکیده
منابع مشابه
A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family
We report a consanguineous family from Saudi Arabia with three affected children presenting with infantile nephrotic syndrome. In order to provide a molecular diagnosis, a genome-wide SNP analysis of the affected patients was performed. We identified a region of homozygosity on chromosome 1, containing the NPHS2 gene. Direct sequencing, by exon PCR, of NPHS2 identified a homozygous nucleotide c...
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1 Pediatrics Center of Excellence. Children's Medical Center, Tehran University of Medical Sciences. Tehran (Iran) 2 Research Center for Immunodeficiencies. Children's Medical Center, Tehran University of Medical Sciences. Tehran (Iran) 3 Department of Pediatrics. Faculty of Medicine, Hacettepe University. Ankara (Turkey) 4 Institute of Human Genetics, University Hospital of Magdeburg. Magdebur...
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Background: Nephrotic syndrome (NS) is an expression of many glomerular diseases and not a disease in itself. Based on response to steroids, NS is categorized into steroid-sensitive nephrotic syndrome (SSNS) or steroid-resistant nephrotic syndrome (SRNS). SRNS patients are at a high risk of developing end-stage renal disease. The aim of the study was to evaluate steroid response and the prevale...
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ژورنال
عنوان ژورنال: Clinical Kidney Journal
سال: 2010
ISSN: 2048-8505,2048-8513
DOI: 10.1093/ndtplus/sfq149