Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease

@article{Wijmenga1998EndemicTI,
  title={Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease},
  author={C. Wijmenga and T. M{\"u}ller and I S Murli and T. Brunt and H. Feichtinger and D. Sch{\"o}nitzer and R. Houwen and W. M{\"u}ller and L. Sandkuijl and P L Pearson},
  journal={European Journal of Human Genetics},
  year={1998},
  volume={6},
  pages={624-628}
}
  • C. Wijmenga, T. Müller, +7 authors P L Pearson
  • Published 1998
  • Biology, Medicine
  • European Journal of Human Genetics
  • Recently, 138 cases of infantile cirrhosis originating in several families in the Austrian province of the Tyrol were reported. This endemic Tyrolean infantile cirrhosis (ETIC) is indistinguishable from Indian childhood cirrhosis (ICC), idiopathic copper toxicosis (ICT), and resembles the early forms of Wilson's disease (WND). It has been argued that ETIC might represent an allelic variant of the WND gene, which is a copper transporting P-type ATPase (ATP7B). Assuming that ETIC results from a… CONTINUE READING
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