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

[Analysis of PKD1 gene mutation in a pedigree affected with autosomal dominant polycystic kidney disease].

Zhonghua yi xue za zhi - 23 Aug 2022

Chen D N, Liu G H, Zhu Z N, Xiong F, Zhang B S

Abstract excerpt

Objective: To analyze the clinical phenotype and detect the pathogenic gene in a Chinese pedigree with autosomal dominant polycystic kidney disease(ADPKD). Methods: The proband of this study was hospitalized in Dongguan City People's Hospital on October 10, 2017, due to "left maxillary apical cyst". Clinical phenotypes were noted, imaging examinations and determination of biochemical indicators were carried out...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Mutation
Share to Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polycystic Kidney, Autosomal Dominant

Share to TRPP Cation Channels

Source

Identifiers

PMID: 36000373
DOI: 10.3760/cma.j.cn112137-20220322-00610

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

[Analysis of PKD1 gene mutation in a pedigree affected with autosomal dominant polycystic kidney disease].PMID 36000373Read ↗

[Analysis of PKD1 gene mutation in a family affected with autosomal dominant polycystic kidney disease].Semantic proximity Read ↗

[Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease].Semantic proximity Read ↗

[An analysis for the phenotype and genotype of autosomal dominant polycystic kidney disease from two Chinese families].Semantic proximity Read ↗

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease].Semantic proximity Read ↗

[Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease at childhood, teenage and advanced age].Semantic proximity Read ↗

[Study of two pedigrees affected with adult polycystic kidney disease and male infertility resulting from novel mutations of PKD1].Semantic proximity Read ↗

A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

[Analysis of PDK1 gene variants and prenatal diagnosis for eight pedigrees affected with autosomal dominant polycystic kidney disease].Semantic proximity Read ↗

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Identification of novel PKD1 mutations in two Chinese families with autosomal dominant polycystic kidney disease by targeted next generation sequencing.Semantic proximity Read ↗

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.Semantic proximity Read ↗

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