Publication details
Microarray technology – a new approach for detection of mutations in ATP7B gene in patients with Wilson disease
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | Sborník abstrakt Celostátní sjezd Společnosti lékařské genetiky ČSL JEP a 40. výroční cytogenetická konference |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | microarray technology; APEX; Wilson disease |
| 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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