✦ LIBER ✦

A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia

✍ Scribed by Chia-Hsiang Hsueh; Yi-Chun Weng; Chao-Yu Chen; Tin-Kwang Lin; Yen-Hung Lin; Ling-Ping Lai; Jiunn-Lee Lin

Book ID: 118448918
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 308 KB
Volume: 108
Category: Article
ISSN: 0167-5273
DOI: 10.1016/j.ijcard.2005.02.051

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular genetics of exercise-induced p

Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms

✍ Laitinen, Päivi J; Swan, Heikki; Kontula, Kimmo 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 98 KB

A novel mutation in FKBP12.6 binding reg

A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia

✍ Yoshiyasu Aizawa; Kazuo Ueda; Satoru Komura; Takashi Washizuka; Masaomi Chinushi 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 188 KB

A Luminal Calcium Sensing Mutation of th

A Luminal Calcium Sensing Mutation of the Cardiac Ryanodine Receptor Diminishes Calcium Waves and Stress -Induced Ventricular Tachycardias in Calsequestrin Null Mice

✍ Zhang, Jingqun; Chen, Biyi; Guo, Ang; Zhou, Qiang; Tan, Zhen; Wu, Guogen; Song, 📂 Article 📅 2013 🏛 Biophysical Society 🌐 English ⚖ 46 KB

Identification of a novel mutation V2321

Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations

✍ Hajime Nishio; Misa Iwata; Akiyoshi Tamura; Tokiko Miyazaki; Kento Tsuboi; Koich 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 432 KB

Mutations of the cardiac ryanodine receptor (RyR2) gene cause catecholaminergic polymorphic ventricular tachycardia, which sometimes results in a finding of sudden unexplained death (SUD) at autopsy. We found a novel mutation (V2321M) in exon 46 of the RyR2 gene in a SUD case. V2321M was localized i

S4153R Is a Gain-of-Function Mutation in

S4153R Is a Gain-of-Function Mutation in the Cardiac Ca2+ Release Channel Ryanodine Receptor Associated With Catecholaminergic Polymorphic Ventricular Tachycardia and Paroxysmal Atrial Fibrillation

✍ Zhabyeyev, Pavel; Hiess, Florian; Wang, Ruiwu; Liu, Yingjie; Wayne Chen, S.R.; O 📂 Article 📅 2013 🏛 Pulsus Group Inc 🌐 English ⚖ 504 KB