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[Genotype-phenotype correlation of patients with wilson disease in Chinese population].

Zhonghua yi xue za zhi - 25 Feb 2003

Wu Zhi-ying, Wang Ning, Lin Min-ting, Fang Ling, Murong Shen-xing

Abstract excerpt

OBJECTIVE: To investigate the correlation between genotype and phenotype of patients with Wilson disease (WD) in the Chinese population. METHODS: Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and subsequent direct sequencing to identify the mutations of ATP7B. Statistical analysis was performed using t test or chi(2) test. RESULTS: The common mutation Arg778Leu was homozygous...

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PMID: 12812649

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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.

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