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Article

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

American journal of medical genetics - 1 Jul 2002

Rogner Ute Christine, Danoy Patrick, Matsuda Fumihiko, Moore Gudrun Elizabeth, Stanier Philip, Avner Philip

Abstract excerpt

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...

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PMID: 12116227
DOI: 10.1002/ajmg.10453

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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