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[Genotype and phenotype correlation in Chinese patients with Wilson's Disease].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jan 2003

Liu Xiao-qing, Zhang Ya-fen, Liu Tze-tza, Gu Xue-fan, Hsiao Kwang-jen, Bao Ke-rong, Yu Li-hua

Abstract excerpt

OBJECTIVE: To determine distribution and mutation pattern of type P ATP7B gene mutation and to explore genotype and phenotype correlation in patients with Wilson's disease (WD). METHODS: Sixty patients with WD from 57 no kinship families, 37 male and 23 female, were enrolled in this study. The age of onset ranged from 4.6 - 39 years, < or = 16 years in 55 patients. Some exons of ATP7B gene mutation were analyzed...

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PMID: 14761325

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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