His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype

  title={His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype},
  author={D. Ha-Hao and H. Hefter and W. Stremmel and C. Casta{\~n}edaGuillot and Ana Bel{\'e}n Hern{\'a}ndez Hern{\'a}ndez and D. Cox and G. Auburger},
  journal={European Journal of Human Genetics},
  • D. Ha-Hao, H. Hefter, +4 authors G. Auburger
  • Published 1998
  • Biology, Medicine
  • European Journal of Human Genetics
  • In the present study we examined 33 German and 10 Cuban unrelated Wilson disease (WND) index patients and their relatives. The common His1069Gln mutation accounted for 42% of all WND chromosomes in the German series and the haplotype C was found to be highly predictive for this mutation. Six WND gene mutations have not been described previously and involved a splice site at intron 18 (3903 + del1G), a termination codon in the copper-binding region of exon 2 (Cys271X), and missense mutations in… CONTINUE READING
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