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Updated: Jun 25, 2026

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level
06:02

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心臓のトロポニンTのホモジゴス変異:高圧性心筋病変症への影響

C Y Ho1, H M Lever, R DeSanctis

  • 1Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA.

Circulation
|October 18, 2000
PubMed
まとめ

新しい心臓のトロポニンT (cTnT) 変異,Ser(179) Pheは,同卵性個体において重度の家族性多動性心筋病 (HCM) を引き起こし,突然死につながる. ヘテロジゴトのキャリアは良性的な臨床経過を示し,HCMにおける遺伝子診断の重要性を強調しています.

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