関連する実験動画

Updated: Dec 30, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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モノジェニック・ディラテッド・カルディオミオパシーの遺伝的寄与を再評価する

Francesco Mazzarotto1,2,3,4, Upasana Tayal1,2, Rachel J Buchan1,2

  • 1National Heart and Lung Institute (F.M., U.T., R.J.B., W.M., A.W., N.W., R.G., E.M., T.J.W.D., L.E.F., M.A., P.I.T., E.E., A.J.B., A.M.R., P.J.R.B., S.K.P., S.A.C., J.S.W.), Imperial College London, United Kingdom.

Circulation
|January 28, 2020
PubMed
まとめ

この研究では 拡張性心筋病 (DCM) に関連する12の重要な遺伝子を特定し,この遺伝性心疾患の診断の精度を向上させました. これらの発見は,DCM遺伝子検査における希少変異の臨床的解釈を強化します.

キーワード:
エクサックメンデルの遺伝学拡大心筋病遺伝子検査稀な変異との関連テスト

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