Article
Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.
Molecular and cellular probes - 1 Aug 2010
Zappu Antonietta, Lepori Maria Barbara, Incollu Simona, Noli Maria Cristina, De Virgiliis Stefano, Cao Antonio, Loudianos Georgios
Abstract excerpt
Wilson's disease (WD) is an autosomal recessive disorder caused by a defective function of the copper transporting ATP7B protein. Analysis of ATP7B gene in the Sardinian population revealed the presence of six common mutations that together account for 85% of WD chromosomes. We have developed an automated approach for the detection of these 6 common Sardinian mutations based on TaqMan technology. Ten DNA samples...
Topics
Join the communities discussing this publication.