Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology
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| 024 | 7 | 0 | |a 10.1515/CCLM.2004.086 |2 doi |
| 035 | |a (NATIONALLICENCE)gruyter-10.1515/CCLM.2004.086 | ||
| 245 | 0 | 0 | |a Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology |h [Elektronische Daten] |c [Dominik Huster, Michael Weizenegger, Stefan Kress, Joachim Mössner, Karel Caca] |
| 520 | 3 | |a 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. | |
| 540 | |a Copyright © 2004 by Walter de Gruyter GmbH & Co. KG | ||
| 690 | 7 | |a Medical equipment & techniques |2 nationallicence | |
| 690 | 7 | |a Medical diagnosis |2 nationallicence | |
| 690 | 7 | |a Diseases & disorders |2 nationallicence | |
| 700 | 1 | |a Huster |D Dominik |4 aut | |
| 700 | 1 | |a Weizenegger |D Michael |4 aut | |
| 700 | 1 | |a Kress |D Stefan |4 aut | |
| 700 | 1 | |a Mössner |D Joachim |4 aut | |
| 700 | 1 | |a Caca |D Karel |4 aut | |
| 773 | 0 | |t Clinical Chemistry and Laboratory Medicine |d Walter de Gruyter |g 42/5(2004-05-10), 507-510 |x 1434-6621 |q 42:5<507 |1 2004 |2 42 |o cclm | |
| 856 | 4 | 0 | |u https://doi.org/10.1515/CCLM.2004.086 |q text/html |z Onlinezugriff via DOI |
| 908 | |D 1 |a research article |2 jats | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1515/CCLM.2004.086 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Huster |D Dominik |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Weizenegger |D Michael |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Kress |D Stefan |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Mössner |D Joachim |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Caca |D Karel |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Clinical Chemistry and Laboratory Medicine |d Walter de Gruyter |g 42/5(2004-05-10), 507-510 |x 1434-6621 |q 42:5<507 |1 2004 |2 42 |o cclm | ||
| 900 | 7 | |b CC0 |u http://creativecommons.org/publicdomain/zero/1.0 |2 nationallicence | |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-gruyter | ||