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

Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome.

Nephrology (Carlton, Vic.) - 1 Jun 2020

Girimaji Niveditha, Murugan Sm Sakthivel, Nada Ritambhra, Sharma Ashish, Rathi Manish, Kohli Harbir S, Gupta Krishna L, Ramachandran Raja

Abstract excerpt

Alport syndrome (AS) is an inherited disorder of basement membranes caused by mutations affecting specific proteins of the type IV collagen family, presenting with nephropathy and extrarenal manifestations such as sensorineural deafness and ocular anomalies. Ten percentage to 15% of the patients with AS have autosomal recessive (ARAS) due to mutation in either COL4A3 or COL4A4 gene. We report a novel mutation in...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Autoantigens

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

Share to Collagen Type IV

Share to Kidney Transplantation

Share to Mutation

Share to Nephritis, Hereditary

Share to Young Adult

Source

Identifiers

PMID: 31925849
DOI: 10.1111/nep.13693

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome.PMID 31925849Read ↗

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

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.Semantic proximity Read ↗

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

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

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.Semantic proximity Read ↗

Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.Semantic proximity Read ↗

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

A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers.Semantic proximity Read ↗

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.Semantic proximity Read ↗

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

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.Semantic proximity Read ↗

COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.Semantic proximity Read ↗

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