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

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

16 Oct 2023

Abstract excerpt

Introduction: Alport syndrome (AS) is an inherited, rare, progressive kidney disease that affects the eye and ear physiology. Pathogenic variants of COL4A5 account for 85% of all cases, while COL4A3 and COL4A4 account for the remaining 15%. Methods: Targeted next-generation sequencing of the COL4A3, COL4A4, and COL4A5 genes was performed in 125 Turkish patients with AS. The patients were compared to 45 controls...

Read the complete abstract on PubMed

Topics

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

Share to Cell Adhesion Molecules Research
Share to Peptidase Inhibition and Analysis
Share to Platelet Disorders and Treatments

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

Source

Identifiers

PMID: 38357258
DOI: 10.1159/000533915

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport SyndromePMID 38357258Read ↗

Genetic study of Alport syndrome in Tunisia.Semantic proximity Read ↗

Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.Semantic proximity Read ↗

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.Semantic proximity Read ↗

A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management PerspectivesSemantic proximity Read ↗

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

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

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

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.Semantic proximity Read ↗

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

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

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.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.