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Updated: Sep 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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染色体3の完全母性イソディソミーによる自己転帰性グリコゲン貯蔵疾患IV型で生まれた乳児

Sigrid Skovby Olsen1, Anja Ernst2, Pia Sønderby Christensen3

  • 1Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.

Case reports in genetics
|September 5, 2025
PubMed
まとめ

単親分裂 (UPD) は,母親から染色体3の2つのコピーを継承したため,希少な遺伝疾患であるグリコゲン貯蔵疾患4型 (GSD IV) を引き起こした. このレポートは,UPDの

キーワード:
GBE1GSDタイプIVオートソームリセッシブグライコゲン貯蔵症 IV型アイソディソミーユニパレンタルディソミー

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