A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome
Author:
Publisher
Elsevier BV
Subject
Pathology and Forensic Medicine
Reference28 articles.
1. Familial steroid-resistant nephrotic syndromes: Recent advances;Fuchshuber;Nephrol Dial Transplant,2000
2. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence;Weber;Kidney Int,2004
3. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome;Ruf;J Am Soc Nephrol,2004
4. Positionally cloned gene for a novel glomerular protein, nephrin, is mutated in congenital nephrotic syndrome;Kestila;Mol Cell,1998
5. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome;Boute;Nat Genet,2000
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1. A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin;Genes & Genomics;2022-01-31
2. Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports;World Journal of Clinical Cases;2021-05-06
3. A no-nonsense approach to hereditary kidney disease;Pediatric Nephrology;2019-12-05
4. Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome;BMC Medical Genetics;2018-11-20
5. Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children;Gene;2017-08
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