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Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

Genetic testing - 1 Jan 2007

Lepori Maria Barbara, Lovicu Mario, Dessi Valentina, Zappu Antonietta, Incollu Simona, Zancan Lucia, Giacchino Raffaella, Iorio Raffaele, Vajro Pietro, Maggiore Giuseppe, Marcellini Matilde, Barbera Cristiana, Pellecchia Maria Teresa, Simonetti Rosanna, Kostic Vladimir, Farci Anna Maria Giulia, Solinas Antonello, De Virgiliis Stefano, Cao Antonio, Loudianos Georgios

Abstract excerpt

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...

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PMID: 17949296
DOI: 10.1089/gte.2007.0015

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