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

Alport syndrome in southern Sweden.

Clinical nephrology - 1 Aug 2005

Persson U, Hertz J M, Wieslander J, Segelmark M

Abstract excerpt

AIM: The aim of the present investigation is to study the epidemiology of Alport syndrome in southern Sweden, to search for mutations in the COL4A5 gene and to estimate the mutation frequency. PATIENTS AND METHODS: Patients with suspected Alport syndrome were identified in an area with a population of 1.45 million. Clinical criteria were used to establish the diagnosis and samples for mutation analysis were...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Chromosomes, Human, X
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Nephritis, Hereditary

Share to Polymerase Chain Reaction

Share to Sweden

Share to Syndrome

Source

Identifiers

PMID: 16114783
DOI: 10.5414/cnp64085

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

Alport syndrome in southern Sweden.PMID 16114783Read ↗

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsSemantic proximity Read ↗

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

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.Semantic proximity Read ↗

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport SyndromeSemantic proximity Read ↗

Molecular genetics of Alport syndrome.Semantic proximity Read ↗

Alport Syndrome: Clinical Spectrum and Therapeutic AdvancesSemantic proximity Read ↗

Phenotypic heterogeneity in females with X-linked Alport syndrome.Semantic proximity Read ↗

X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 CasesSemantic proximity Read ↗

A Family Report and Literature Review of X-Linked Alport Syndrome Associated With the COL4A5 c.4700G>A (p.Cys1567Tyr) Variant:A case reportSemantic proximity Read ↗

Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport SyndromeSemantic proximity Read ↗

[Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains].Semantic proximity Read ↗

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.Semantic proximity Read ↗

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