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

Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.

Human mutation - 1 Oct 2002

Dagher Hayat, Yan Wang Yan, Fassett Rob, Savige Judy

Abstract excerpt

Autosomal recessive Alport syndrome is caused by mutations in the COL4A3 and COL4A4 genes which code for the alpha3 and alpha4 chains of type IV collagen. These mutations result in haematuria, progressive renal impairment and often hearing loss, lenticonus and retinopathy. We describe here the mutations demonstrated by screening the 47 coding exons of the COL4A4 gene in six families with autosomal recessive...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Terminator
Share to Collagen Type IV
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Frameshift Mutation

Share to Genes, Recessive

Share to Genetic Carrier Screening

Share to Nephritis, Hereditary

Source

Identifiers

PMID: 12325029
DOI: 10.1002/humu.9065

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

Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.PMID 12325029Read ↗

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

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.Semantic proximity Read ↗

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

Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio Grande do Norte, BrazilSemantic proximity Read ↗

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.Semantic proximity Read ↗

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

A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.Semantic proximity Read ↗

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.Semantic proximity Read ↗

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.Semantic proximity Read ↗

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.Semantic proximity Read ↗

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.Semantic proximity Read ↗

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.Semantic proximity Read ↗

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