Article
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.
Genetic testing and molecular biomarkers - 1 Apr 2009
Lovicu Mario, Lepori Maria Barbara, Incollu Simona, Dessì Valentina, Zappu Antonietta, Iorio Raffaele, D'Ambrosi Mariangela, Pellecchia Maria Teresa, Barone Paolo, Maggiore Giuseppe, De Virgiliis Stefano, Cao Antonio, Loudianos Georgios
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder caused by a defective function of the copper-transporting ATP7B protein. This results in progressive copper overload and consequent liver, brain, and kidney damage. Approximately 300 WD-causing mutations have been described to date. Missense mutations are largely prevalent, while splice-site mutations are rarer. Of these, only a minority are detected in...
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