High prevalence of the very rare wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): A genetic and clinical study

@article{GarcaVillarreal2000HighPO,
  title={High prevalence of the very rare wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): A genetic and clinical study},
  author={L. Garc{\'i}a-Villarreal and S. Daniels and S. Shaw and D. Cotton and M. Galvin and J. Geskes and P. Bauer and A. Sierra-Hern{\'a}ndez and A. Buckler and A. Tugores},
  journal={Hepatology},
  year={2000},
  volume={32}
}
The molecular basis of Wilson disease (WD), an autosomal recessive disorder, is the presence of mutations in the ATP7B gene, a copper transporting ATPase. Hospital records indicated a higher prevalence of WD (1 in 2,600) in some counties in the northeastern region of the island of Gran Canaria (Canary Islands, Spain) that was around 10‐fold higher than that described for European populations (1 in 30,000). The ATP7B gene was analyzed for mutations in 24 affected subjects, revealing a high… Expand
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