Maria Laura Ferrando
Researcher
Area of interest:
Most significant publications:
2013
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population Journal Article
In: Eur J Hum Genet, 21 (11), pp. 1308–1311, 2013.
2012
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis Journal Article
In: Mol Cell Probes, 26 (4), pp. 147–150, 2012.
2011
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient Journal Article
In: Mol Cell Probes, 25 (5-6), pp. 195–198, 2011.
2009
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease Journal Article
In: Genet Test Mol Biomarkers, 13 (2), pp. 185–191, 2009.
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