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 relationship and genetics study of 115 cases with Wilson's disease].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Jun 2024

Xia J K, Ning H F, Luo X, Zeng Y, Chen Y B, Kong X D

Abstract excerpt

Objective: To explore the genotype-phenotype relationship of Wilson's disease (WD) and further study the mutation spectrum in the ATP7B gene. Methods: The clinical data and genetic test results of 115 cases with WD diagnosed in the First Affiliated Hospital of Zhengzhou University from 2015 to 2022 were retrospectively analyzed. The rank sum test was used for quantitative data comparison, and χ(2) test was used...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to Cation Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Copper-Transporting ATPases

Share to Genetic Association Studies

Share to Genetic Testing

Share to Hepatolenticular Degeneration

Share to High-Throughput Nucleotide Sequencing

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 38964899
DOI: 10.3760/cma.j.cn501113-20240416-00208
PMCID: PMC12898972

Genes

ATP7B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease].PMID 38964899Read ↗

[Phenotypes and ATP7B gene variants in 316 children with Wilson disease].Semantic proximity Read ↗

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.Semantic proximity Read ↗

[Phenotype and genotype analysis of 55 children patients with Wilson's disease].Semantic proximity Read ↗

Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.Semantic proximity Read ↗

Phenotypic and Genetic Characterization of children with Wilson Disease from Northeast ChinaSemantic proximity Read ↗

Clinical characteristics and genetic features of patients with Wilson's disease in southwestern China.Semantic proximity Read ↗

The genetics of Wilson disease.Semantic proximity Read ↗

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.Semantic proximity Read ↗

[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease].Semantic proximity Read ↗

Currently Clinical Views on Genetics of Wilson's Disease.Semantic proximity Read ↗

Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson diseaseSemantic proximity Read ↗

Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.Semantic proximity Read ↗

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