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

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

Clinical nephrology - 1 Nov 2021

Liao Yong, Cheng Jing, Zhao Yu

Abstract excerpt

AIM: Autosomal dominant inheritance of Alport syndrome (AS) is very rare, and only a few unrelated families have been found with COL4A3 or COL4A4 gene mutations. Therefore, we aimed to explore the COL4A4 gene mutation spectrum in autosomal recessive Alport syndrome (ARAS). MATERIALS AND METHODS: Blood samples of the proband and his parents were sent to the Institute of Rare Diseases at the West China Hospital of...

Read the complete abstract on PubMed

Topics

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

Share to Autoantigens
Share to China
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Nephritis, Hereditary

Source

Identifiers

PMID: 34448697
DOI: 10.5414/CN110540

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive Alport syndrome caused by a novel COL4A4 compound heterozygous mutation: A case report.PMID 34448697Read ↗

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

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

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

[Analysis of genetic variant in a child with autosomal recessive Alport syndrome].Semantic proximity Read ↗

Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.Semantic proximity Read ↗

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

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.Semantic proximity Read ↗

[Analysis of Alport syndrome induced by type IV collagen alpha 5 gene mutation in two families].Semantic proximity Read ↗

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

Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.Semantic proximity Read ↗

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport SyndromeSemantic proximity Read ↗

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

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