Discover Community Create You

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

Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome.

BioMed research international - 1 Jan 2020

Wang Zhendong, Jiang Baichun, Jin Shiqi, Hu Zhao, Liu Guangyi

Abstract excerpt

Alport syndrome (AS) is a hereditary nephropathy which is characterized by molecular abnormalities in collagen IV. Here, we report compound mutations of the COL4A3 gene including a novel allele identified in a patient with Alport syndrome. The patient was a 25-year-old Chinese woman. She has a history of proteinuria and hematuria with cleft lip and palate. The pathologic results were consistent with Alport...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoantigens
Share to Biopsy
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Conserved Sequence

Share to Exome Sequencing

Share to Kidney

Share to Nephritis, Hereditary

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 33524082
DOI: 10.1155/2020/1626378
PMCID: PMC7673930

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome.PMID 33524082Read ↗

A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report.Semantic proximity Read ↗

Five novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndromeSemantic proximity Read ↗

A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.Semantic proximity Read ↗

Autosomal recessive Alport syndrome caused by a novel COL4A4 compound heterozygous mutation: A case report.Semantic proximity Read ↗

Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.Semantic proximity Read ↗

Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.Semantic proximity Read ↗

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.Semantic proximity Read ↗

Novel mutations of COL4A3 , COL4A4 , and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence techniqueSemantic proximity Read ↗

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.Semantic proximity Read ↗

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.Semantic proximity Read ↗

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.Semantic proximity Read ↗

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.Semantic proximity Read ↗

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