Lepori , Maria Barbara and Lovicu, Mario and Dessì, Valentina and Zappu, Antonietta and Incollu, Simona and Zancan, Lucia and Giacchino, Raffaella and Iorio, Raffaele and Vajro, Pietro and Maggiore, Giuseppe and Marcellini, Matilde and Barbera, Cristiana and Kostic, Vladimir and Farci, Anna Maria Giulia and Solinas, Antonio and De Virgiliis, Stefano and Cao, Antonio and Loudianos, Georgios (2007) Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Genetic Testing and Molecular Biomarkers, Vol. 11 (3), p. 328-332. eISSN 1945-0257. Article.
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Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study. A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy. Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.
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