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[Identification of a novel missense mutation in Wilson disease gene].

Zhonghua yi xue za zhi - 1 May 1997

Yang R, Fan Y, Yu L

Abstract excerpt

OBJECTIVE: To investigate the allelic heterogeneity of ATP 7 B gene in Chinese patients. METHODS: Exons of ATP7B gene from patient's DNA were amplified with PCR technique. Mutations were screened by single strand conformation polymorphism (SSCP) analysis and further confirmed by sequencing. RESULTS: The molecular structure of exon 7 of the ATP7B gene from 141 WD patients was preliminarily analyzed. A similar band...

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PMID: 9772488

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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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