Item type:Thesis, Open Access

Genetische Ursachen von Neuralrohrdefekten beim Menschen - Assoziationsstudien und Kandidatengenanalysen

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Date

2003-08-08

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Philipps-Universität Marburg
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Abstract

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).

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Dates
Created: 2003Issued: 2003-08-08Updated: 2011-08-10
DOI
https://doi.org/10.17192/z2003.0142
Faculty
Medizin
Publisher
Philipps-Universität Marburg
Language
ger
Data types
DoctoralThesis
Keywords
association studyhuman neural tube defects
DFG-subjects
GenmutationMissbildungMedullarrohrdefektScreening
DDC-Numbers
610
License
https://rightsstatements.org/vocab/InC-NC/1.0/
URI
https://open.uni-marburg.de/handle/10.17192/z2003.0142
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Felder, Bärbel (124928854): Genetische Ursachen von Neuralrohrdefekten beim Menschen - Assoziationsstudien und Kandidatengenanalysen. : Philipps-Universität Marburg 2003-08-08. DOI: https://doi.org/10.17192/z2003.0142.

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This item has been published with the following license: In Copyright