title: [A study of gene products encoded by Wilson disease gene].
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.
authors.affiliation: Department of Neurology, First Affiliated Hospital, Sun Yat-sen University of Medical Sciences, Guangzhou 510080, China.
authors.forename: X
authors.initials: X
authors.lastname: Liang
authors.forename: G
authors.initials: G
authors.lastname: Hou
authors.forename: R
authors.initials: R
authors.lastname: Chen
authors.forename: P
authors.initials: P
authors.lastname: Xu
authors.forename: F
authors.initials: F
authors.lastname: Huang
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: Z
authors.initials: Z
authors.lastname: Yan
authors.lastname: Ou c
mesh_terms: D000251:Adenosine Triphosphatases / Q000032:analysis*; D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000032:analysis*; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases