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

Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.

American journal of medical genetics. Part A - 1 Sept 2012

Zhang Yanqin, Wang Fang, Ding Jie, Zhang Hongwen, Zhao Dan, Yu Lixia, Xiao Huijie, Yao Yong, Zhong Xuhui, Wang Suxia

Abstract excerpt

Autosomal recessive Alport syndrome (ARAS) results from mutations in the COL4A3 or COL4A4 gene. We analyzed the genotype and phenotype of 17 unrelated Chinese patients with ARAS. Clinical data were reviewed. All coding exons of COL4A3 and COL4A4 genes were PCR-amplified and sequenced from genomic DNA. We identified pathologic mutations in all patients, giving a mutation detection rate of 100%, with 82% in COL4A3...

Read the complete abstract on PubMed

Topics

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

Share to Autoantigens
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type IV

Share to Genes, Recessive

Share to Nephritis, Hereditary

Share to Polymerase Chain Reaction

Share to Young Adult

Source

Identifiers

PMID: 22887978
DOI: 10.1002/ajmg.a.35528

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.PMID 22887978Read ↗

Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.Semantic proximity Read ↗

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

Phenotypic and genotypic features of Alport syndrome in Chinese children.Semantic proximity Read ↗

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

Autosomal recessive Alport syndrome caused by a novel COL4A4 compound heterozygous mutation: A case report.Semantic proximity Read ↗

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.Semantic proximity Read ↗

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

[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study].Semantic proximity Read ↗

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

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

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

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

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