Article
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Gene - 10 Jul 2012
Abid Aiysha, Khaliq Shagufta, Shahid Saba, Lanewala Ali, Mubarak Mohammad, Hashmi Seema, Kazi Javed, Masood Tahir, Hafeez Farkhanda, Naqvi Syed Ali Anwar, Rizvi Syed Adeebul Hasan, Mehdi Syed Qasim
Abstract excerpt
BACKGROUND: Mutations in the NPHS1 and NPHS2 genes are among the main causes of early-onset and familial steroid resistant nephrotic syndrome respectively. This study was carried out to assess the frequencies of mutations in these two genes in a cohort of Pakistani pediatric NS patients. METHODS: Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS)...
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