Article
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Molecular and cellular probes - 1 Aug 2012
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
Abstract excerpt
Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. Herein we report the results of mutation analysis of the ATP7B gene in a group of 118 Wilson disease families (236 chromosomes) prevalently of Italian origin. Using DNA sequencing we identified 83 disease-causing mutations. Eleven were...
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