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[An analysis of mutations causing Gaucher disease in Chinese population].

Zhonghua yi xue za zhi - 29 Dec 2009

Zhang Wei-min, Tang N L, Meng Yan, Yao Feng-xia, Qiu Zheng-qing, Duan Yan-long, Huang Shang-zhi, Shi Hui-ping

Abstract excerpt

OBJECTIVE: To review and investigate the relationship of genotype and phenotype in Chinese patients with Gaucher disease (GD). METHODS: The samples were first screened for known mutations as reported previously in Chinese population. Long chain PCR and nested PCR were employed to amplify the segments of glucocerebrosidase functional gene in patients with unknown mutant alleles. The products of nested-PCR were...

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PMID: 20223112

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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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