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@inproceedings{751987,
author = {Gojova, L. and Jansova, E. and Vrabelova, S. and Kozák, Libor},
address = {Praha},
booktitle = {Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy},
keywords = {microarray technology; APEX; Wilson disease; APT7B gene},
language = {eng},
location = {Praha},
isbn = {978-80-239-9322-6},
pages = {31-31},
publisher = {Všeobecná fakultní nemocnice v Praze},
title = {Microarray technology – a new approach for detection of mutations in ATP7B gene in patients with Wilson disease},
year = {2007}
}
TY - JOUR
ID - 751987
AU - Gojova, L. - Jansova, E. - Vrabelova, S. - Kozák, Libor
PY - 2007
TI - Microarray technology – a new approach for detection of mutations in ATP7B gene in patients with Wilson disease
PB - Všeobecná fakultní nemocnice v Praze
CY - Praha
SN - 9788023993226
KW - microarray technology
KW - APEX
KW - Wilson disease
KW - APT7B gene
N2 - 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.
ER -
GOJOVA, L., E. JANSOVA, S. VRABELOVA and Libor KOZÁK. Microarray technology – a new approach for detection of mutations in ATP7B gene in patients with Wilson disease. In \textit{Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy}. Praha: Všeobecná fakultní nemocnice v Praze, 2007, p.~31. ISBN~978-80-239-9322-6.
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