High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs von Antonietta, Zappu, Olympia, Magli, Lepori, Maria Barbara, Valentina, Dessì, Stefania, Diana, Simona, Incollu, Emmanuel, Kanavakis, Polyxeni, Nicolaidou, Nina, Manolaki, Andreas, Fretzayas, Stefano, De Virgiliis, Antonio, Cao, Georgios, Loudianos

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Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis von Antonietta Zappu, Simona Incollu, Francesca Chiappe, Maria Barbara Lepori, Georgios Loudianos

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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population von Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Lepori, Maria Barbara, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni

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Erratum: The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population von Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Barbara Lepori, Maria, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni

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Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism von Loudianos, Georgios, Incollu, Simona, Mameli, Eva, Lepori, Maria B

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Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis von Lepori, Maria-Barbara, Zappu, Antonietta, Incollu, Simona, Dessì, Valentina, Mameli, Eva, Demelia, Luigi, Nurchi, Anna Maria, Gheorghe, Liana, Maggiore, Giuseppe, Sciveres, Marco, Leuzzi, Vincenzo, Indolfi, Giuseppe, Bonafé, Luisa, Casali, Carlo, Angeli, Paolo, Barone, Patrizia, Cao, Antonio, Loudianos, Georgios

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Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening von Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Noli, Maria Cristina, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

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Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report von Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Noli, Maria Cristina, Mameli, Eva, Bonafé, Luisa, Garcia Dépraz, Nuria, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

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DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH sub(2-terminal region of the ATP7B gene in a Wilson disease patient) von Incollu, Simona, Lepori, Maria Barbara, Zappu, Antonietta, Dessi, Valentina, Noli, Maria Cristina, Mameli, Eva, Iorio, Raffaele, Ranucci, Giusy, Cao, Antonio, Loudianos, Georgios

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DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH 2-terminal region of the ATP7B gene in a Wilson disease patient von Incollu, Simona, Lepori, Maria Barbara, Zappu, Antonietta, Dessì, Valentina, Noli, Maria Cristina, Mameli, Eva, Iorio, Raffaele, Ranucci, Giusy, Cao, Antonio, Loudianos, Georgios

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