NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome
Author:
Publisher
Oxford University Press (OUP)
Subject
Transplantation,Nephrology
Link
http://academic.oup.com/ndt/article-pdf/24/8/2411/5466031/gfp122.pdf
Reference23 articles.
1. Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome
2. Nephrin is specifically located at the slit diaphragm of glomerular podocytes
3. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
4. Proteinuria and Perinatal Lethality in Mice Lacking NEPH1, a Novel Protein with Homology to NEPHRIN
5. Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability
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1. Three Novel Heterozygous Mutations of NPHS1 Gene Causing Infants with Congenital Nephrotic Syndrome: Two Chinese (Han) Cases;Clinical Laboratory;2023
2. Identification of NPHS1 Genetic Variations in Cohort of Egyptian Patients with Congenital Nephrotic Syndrome;Open Access Macedonian Journal of Medical Sciences;2022-01-14
3. Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports;World Journal of Clinical Cases;2021-05-06
4. A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis;BMC Medical Genetics;2019-06-19
5. Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome;BMC Nephrology;2018-12
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