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Updated: Jul 10, 2026

Genetic and Biochemical Approaches for In Vivo and In Vitro Assessment of Protein Oligomerization: The Ryanodine Receptor Case Study
12:43

Genetic and Biochemical Approaches for In Vivo and In Vitro Assessment of Protein Oligomerization: The Ryanodine Receptor Case Study

Published on: July 27, 2016

人間のRYR2関連疾患のスペクトルの拡大:新しい心電図,構造,遺伝的特徴

Zahurul A Bhuiyan1, Maarten P van den Berg, J Peter van Tintelen

  • 1Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands. z.a.bhuiyan@amc.uva.nl

Circulation
|September 19, 2007
PubMed
まとめ

ライアノジン受容体2 (RYR2) 遺伝子の大きな欠失により,カテコアミナージックポリモルフな心室動脈不全症およびその他の心律の障害が生じます. この遺伝的発見は,RYR2に関連した心疾患の既知の臨床スペクトルを拡張しています.

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