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[Study on mutation of exon 8 of Wilson's disease gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 1999

Xu P, Liang X, Ma S

Abstract excerpt

OBJECTIVE: To analyze the frequency of mutation in exon 8 of Wilson's disease (WD) gene in Chinese people. METHODS: Screening for ATP7B gene mutation was conducted in 45 WD patients. Mobility shift of exon 8 was analyzed by SSCP. Nucleotide sequence of exon 8 was analyzed, and the PCR products were cut by enzyme Msp I. The authors found G2273T mutation at codon 778, and according to this mutation sequence, made...

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PMID: 10194253

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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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