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 dominant Alport syndrome caused by a COL4A3 splice site mutation.

Kidney international - 1 Nov 2000

van der Loop F T, Heidet L, Timmer E D, van den Bosch B J, Leinonen A, Antignac C, Jefferson J A, Maxwell A P, Monnens L A, Schröder C H, Smeets H J

Abstract excerpt

BACKGROUND: Alport syndrome (AS) is a clinically and genetically heterogeneous renal disorder, predominantly affecting the type IV collagen alpha 3/alpha 4/alpha 5 network of the glomerular basement membrane (GBM). AS can be caused by mutations in any of the three genes encoding these type IV collagen chains. The majority of AS families (85%) are X-linked (XL-AS) involving mutations in the COL4A5 gene. Mutations...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Collagen

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

Share to DNA, Complementary

Share to DNA, Recombinant

Share to Genes, Dominant

Share to Nephritis, Hereditary

Share to Nucleic Acid Heteroduplexes

Share to Pedigree

Source

Identifiers

PMID: 11044206
DOI: 10.1111/j.1523-1755.2000.00358.x

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

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.PMID 11044206Read ↗

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variantSemantic proximity Read ↗

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

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

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature ReviewSemantic proximity Read ↗

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

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

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.Semantic proximity Read ↗

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

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

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

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeSemantic proximity Read ↗

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.Semantic proximity Read ↗

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