Microarray technology – a new approach for detection of mutations in ATP7B gene in patients with Wilson disease

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Authors

GOJOVA L. JANSOVA E. VRABELOVA S. KOZÁK Libor

Year of publication 2007
Type Article in Proceedings
Conference Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy
MU Faculty or unit

Faculty of Science

Citation
Field Genetics and molecular biology
Keywords microarray technology; APEX; Wilson disease; APT7B gene
Description We have developed the Wilson chip for detection of 87 mutations and 17 polymorphisms in ATP7B gene, which represent the most common reported sequence variants across population groups. Up to date, we have detected 39 mutations and 17 polymorphisms correctly in comparison with direct sequencing in all tested DNA samples. The establishment of the Wilson chip could speed up and facilitate molecular diagnostics of Wilson disease in future.
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