caa a22 4500 378892142 CHVBK 20180305123457.0 cr unu---uuuuu 161128e20040510xx s 000 0 eng 10.1515/CCLM.2004.086 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2004.086 Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology [Elektronische Daten] [Dominik Huster, Michael Weizenegger, Stefan Kress, Joachim Mössner, Karel Caca] Wilson disease leads to severe hepatic and neurological pathology resulting from cellular copper overload in the respective tissue. Although the affected gene, ATP7B, has been identified, genetic testing is challenging, time-consuming and expensive. Here we describe the development and use of a novel diagnostic test for four frequent mutations (M769V, W779X, H1069Q and P1134P-fs) found in Germany and many other countries in Europe. The test is based on multiplex polymerase chain reaction and DNA strip technology and was found to be highly sensitive and specific, as well as timely and cost-effective. We conclude that this test is a useful and reliable tool to screen Wilson disease patients and their family members for these mutations and may facilitate diagnosis in this complex disease. Copyright © 2004 by Walter de Gruyter GmbH & Co. KG Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence Huster Dominik aut Weizenegger Michael aut Kress Stefan aut Mössner Joachim aut Caca Karel aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/5(2004-05-10), 507-510 1434-6621 42:5<507 2004 42 cclm https://doi.org/10.1515/CCLM.2004.086 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2004.086 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Huster Dominik aut NATIONALLICENCE 700 1- Weizenegger Michael aut NATIONALLICENCE 700 1- Kress Stefan aut NATIONALLICENCE 700 1- Mössner Joachim aut NATIONALLICENCE 700 1- Caca Karel aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/5(2004-05-10), 507-510 1434-6621 42:5<507 2004 42 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter