SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects?

@article{Rogner2002SNPsIT,
  title={SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects?},
  author={Ute Christine Rogner and Patrick Danoy and Fumihiko Matsuda and Gudrun E Moore and Philip Stanier and P. Avner},
  journal={American journal of medical genetics},
  year={2002},
  volume={110 3},
  pages={208-14}
}
Deletion of the murine X-linked Nap1l2 gene causes lethality from midgestation onwards. The affected embryos exhibit neural tube defects (NTDs) closely resembling spina bifida and anencephaly in humans. X-linked familial and spontaneous cases of NTD were analyzed for sequence alterations in the human NAP1L2. No differences were found in the familial cases. However, a number of single nucleotide polymorphisms (SNPs) within the 5' region of NAP1L2 were identified both in cases of spontaneous NTD… CONTINUE READING

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