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Article

NPHS2 mutations.

Indian journal of pediatrics - 1 Feb 2008

Bakr Ashraf, Yehia Soheir, El-Ghannam Doaa, Hammad Ayman, Ragab Mohamed, Sarhan Amr, Al-Husseni Fatma, Al-Morsy Zakaria

Abstract excerpt

OBJECTIVE: To uncover the frequency and the spectrum of NPHS2 mutations in Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS). METHODS: Sixteen patients were screened by PCR-single-strand conformation polymorphism analysis of NPHS2 gene followed by direct sequencing. RESULTS: NPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame...

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Topics

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Share to Intracellular Signaling Peptides and Proteins
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nephrotic Syndrome

Share to Frameshift Mutation

Share to Cross-Sectional Studies

Share to Polymorphism, Single-Stranded Conformational

Share to Prevalence

Source

Identifiers

PMID: 18334793
DOI: 10.1007/s12098-008-0020-y

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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