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Genetische Ursachen von Neuralrohrdefekten beim Menschen - Assoziationsstudien und Kandidatengenanalysen
Neuralrohrdefekte (NRD) sind häufig auftretende angeborene Fehlbildungen des Zentralen Nervensystems, über deren Ursachen bis heute nur wenig bekannt ist. Gesichert erscheint jedoch die Annahme, dass die Entstehung von NRD multifaktoriell bedingt ist. Man geht davon aus, dass die Entwicklungsstörung...
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| Format: | Doctoral Thesis |
| Language: | German |
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Philipps-Universität Marburg
2003
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| Online Access: | PDF Full Text |
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Neural tube defects (NTD) are common congenital malformations in humans. NTDs are likely to result from an interaction of several genes and environmental factors. The current view is that combinations of sequence variants in different genes have additive effects on determining the malformation. Therefore it is important to identify such sequence variants to get a better understanding of NTD pathogenesis. Potential candidate genes are offered by animal models. NTDs have been observed in a variety of mutant mice. In this work DNA of NTD patients was screened for mutations in five developmental genes (CART1, BMP4, T, PDGFRa and TWIST).