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Updated: Sep 9, 2025

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西メキシコの乳児における開かれた神経管欠陥のリスク因子としてのNOS3894G>T (p.Glu298Asp) 変異の評価

Diana Karen Pérez-Alfaro1, Lucina Bobadilla-Morales1,2, Alfredo Corona-Rivera1,2

  • 1Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico.

Genetic testing and molecular biomarkers
|August 29, 2025
PubMed
まとめ

NOS3 894G> Tの変異は,西メキシコの乳児における開かれた神経管欠陥 (ONTD) のリスクを増加させる. この遺伝的要因は窒素酸化物経路と葉酸代謝に関連しているが,閉じたNTDとは関係ありません.

キーワード:
NOS3 について脳の欠損メニゴミエロセル開いた神経管の欠陥スピナ・ビフィダ

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