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    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)