Article
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
Journal of medical genetics - 1 Nov 1999
Loudianos G, Dessi V, Lovicu M, Angius A, Altuntas B, Giacchino R, Marazzi M, Marcellini M, Sartorelli M R, Sturniolo G C, Kocak N, Yuce A, Akar N, Pirastu M, Cao A
Abstract excerpt
In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish origin, were analysed and the mutation characterised in 84.5% of them. We found 50 different mutations of which 19 are novel, including three nonsense, one frameshift,...
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