Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Three Novel Heterozygous Mutations of NPHS1 Gene Causing Infants with Congenital Nephrotic Syndrome: Two Chinese (Han) Cases.

Clinical laboratory - 1 Aug 2023

Lv Hongyan, Liu Fang, Wang Qiuli, Dong Zhiyong, Ren Pengshun, Zhang Huiming, Yan Xiaohui, Li Lianxiang

Abstract excerpt

BACKGROUND: Congenital nephrotic syndrome (CNS) of the Finnish type (CNF) is an autosomal recessively disorder. NPHS1 gene mutation is the main gene responsible for CNF. This study aimed to explore the clinical manifestations and the characteristics of genetic variation in Chinese patients with CNS. METHODS: A 15-minute-old boy and a 34-day-old girl with CNS were included. NPHS1 gene was detected by...

Topics

Join the communities discussing this publication.

East Asian People
Heterozygote
Infant
Infant, Newborn
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nephrotic Syndrome

Source

Identifiers

PMID: 37560858
DOI: 10.7754/Clin.Lab.2023.230121

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three Novel Heterozygous Mutations of NPHS1 Gene Causing Infants with Congenital Nephrotic Syndrome: Two Chinese (Han) Cases.PMID 37560858Read ↗

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.Semantic proximity Read ↗

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.Semantic proximity Read ↗

Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.Semantic proximity Read ↗

Gene mutation analysis in 12 Chinese children with congenital nephrotic syndromeSemantic proximity Read ↗

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).Semantic proximity Read ↗

Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.Semantic proximity Read ↗

Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome.Semantic proximity Read ↗

NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.Semantic proximity Read ↗

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.Semantic proximity Read ↗

Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome.Semantic proximity Read ↗

[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].Semantic proximity Read ↗

Congenital nephrotic syndrome with a novel NPHS1 mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.