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Updated: Feb 23, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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フェニルケトン尿症における遺伝子型と表現型の相関：治療設計のためのPAHバリアントとBH4応答性

Meryem Karaca1,2, Asuman Gedikbasi3, Arzu Selamioğlu4,5

  • 1Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Turgut Özal Millet street Fatih, 34093, Istanbul, Türkiye. meryem.karaca@istanbul.edu.tr.

Human genomics
|February 21, 2026
PubMed
まとめ

No abstract available in PubMed .

キーワード:
PAH遺伝子BH4負荷試験BH4治療MLPA新生児スクリーニングフェニルケトン尿症

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