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

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

Journal of human genetics - 1 Sept 2011

Wang Li-Hua, Huang Ye-Qing, Shang Xuan, Su Quan-Xi, Xiong Fu, Yu Qing-Yun, Lin Hui-Ping, Wei Zhi-Sheng, Hong Ming-Fan, Xu Xiang-Min

Abstract excerpt

This study was designed to investigate the molecular basis and the correlation between genotype and phenotype in the southern Chinese patients with Wilson's disease (WD). Genotypes of the ATP7B gene in 73 WD patients were examined by denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing. A total of 38 different disease-causing mutations were identified, including 10 novel mutations:...

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 Asian People

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

Share to Cation Transport Proteins

Share to Child, Preschool

Share to Chromatography, High Pressure Liquid

Share to Copper-Transporting ATPases

Share to DNA Mutational Analysis

Share to Hepatolenticular Degeneration

Source

Identifiers

PMID: 21796144
DOI: 10.1038/jhg.2011.76

Variants

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

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.PMID 21796144Read ↗

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

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

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

Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.Semantic proximity Read ↗

Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.Semantic proximity Read ↗

Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.Semantic proximity Read ↗

Mutational analysis of ATP7B in north Chinese patients with Wilson disease.Semantic proximity Read ↗

Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients 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 ↗

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

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.Semantic proximity Read ↗

Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.Semantic proximity Read ↗

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