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Updated: Sep 10, 2025

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RNA 分析により,先天性 ディスケラトーシスの病原性 PARN 変種が発見

Daria Akimova1, Natalia Semenova1, Tatiana Cherevatova1

  • 1Research Centre for Medical Genetics, Moscow, Russia.

Clinical genetics
|August 26, 2025
PubMed
まとめ

この研究では,非典型的な症状を持つ患者に先天性ディスカラトーシス (DC) を引き起こす PARN 遺伝子の新型内在変異が特定されました. 機能性RNA分析により 変種が確認されました

キーワード:
PARN遺伝子RNA分析についてWGS についてブランチポイント生まれつきの軟骨症イントロニック変種コードなしの変種

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