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Article

Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane

19 Oct 2004

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15496146
DOI: 10.1111/j.1523-1755.2004.00898.x

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Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membranePMID 15496146Read ↗

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic CounselingSemantic proximity Read ↗

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.Semantic proximity Read ↗

A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin.Semantic proximity Read ↗

Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of MutationsSemantic proximity Read ↗

Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.Semantic proximity Read ↗

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.Semantic proximity Read ↗

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndromeSemantic proximity Read ↗

Novel NPHS1 gene mutation in an Iranian patient with congenital nephrotic syndrome of the Finnish type.Semantic proximity Read ↗

NPHS2 Mutations: A Closer Look to Latin American Countries.Semantic proximity Read ↗

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutationSemantic proximity Read ↗

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.Semantic proximity Read ↗

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