The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

Abstract

Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in Sardinia it is in the order of 1/10 000. However, all of these estimates are likely to suffer from an underdiagnosis bias. Indeed, a recent molecular neonatal… (More)
DOI: 10.1038/ejhg.2013.261

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