| Literature DB >> 10765131 |
E C Melvin1, T M George, G Worley, A Franklin, J Mackey, K Viles, N Shah, C R Drake, D S Enterline, D McLone, J Nye, W J Oakes, C McLaughlin, M L Walker, P Peterson, T Brei, C Buran, J Aben, B Ohm, I Bermans, M Qumsiyeh, J Vance, M A Pericak-Vance, M C Speer.
Abstract
Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families. Copyright 2000 S. Karger AG, BaselEntities:
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Year: 2000 PMID： 10765131 DOI： 10.1159/000028889
Source DB: PubMed Journal: Pediatr Neurosurg ISSN： 1016-2291 Impact factor: 1.162