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  • Title: [A study of gene products encoded by Wilson disease gene].
    Author: Liang X, Hou G, Chen R, Xu P, Huang F, Wang Y, Yan Z, Ou c.
    Journal: Zhonghua Gan Zang Bing Za Zhi; 2001 Apr; 9(2):86-8. PubMed ID: 11350685.
    Abstract:
    OBJECTIVE: To investigate the pathogenesis of Wilson disease (WD) by detecting its gene products encoded by WD gene (ATP7B). METHODS: Patients diagnosed as WD were analyzed by SDS-PAGE in conjunction with Western blot. Two antibodies were used, which are specially against the sixth copper binding domain (Anti-CuBD) and ATP binding domain (Anti-ABD) of WD protein. RESULTS: The WD proteins were not expressed in two patients when using anti-CuBD, and poorly expressed when using anti-ABD. CONCLUSIONS: WD is highly heterogeneous in clinical manifestations and inheritance pattern. Two WD patients might simultaneously have exon 5 mutations and exon 8 mutations. The study of WD gene products would probe into the pathogenesis of WD.
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