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    Wilson’s disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

    Wilson’s disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expresse...

    C. Battisti, M. T. Dotti, G. Loudianos, V. Dessì, S. Battistini… in Neurological Sciences (2004)

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    Article

    Wilson disease mutations associated with uncommon haplotypes in mediterranean patients

    This study reports 12 novel mutations of the Wilson disease (WD) gene which have been detected by the molecular analysis of 29 patients of Mediterranean descent carrying uncommon chromosomal haplotypes at the...

    G. Loudianos, Valeria Dessì, Andrea Angius, Mario Lovicu, Angela Loi… in Human Genetics (1996)