✦ LIBER ✦

Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases

✍ Scribed by M. K. Larsen, K. E. Berge, T. P. Leren, P. H. Nissen, J. Hansen, I. B. Kristensen, J. Banner, H. K. Jensen

Book ID: 118784226
Publisher: Springer-Verlag
Year: 2012
Tongue: German
Weight: 205 KB
Volume: 127
Category: Article
ISSN: 0937-9827
DOI: 10.1007/s00414-011-0658-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Postmortem genetic screening of SNPs in

Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population

✍ Huang, Lei; Liu, Chao; Tang, Shuangbo; Su, Terry; Cheng, Jianding 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 291 KB

Targeted Mutational Analysis of the RyR2

Targeted Mutational Analysis of the RyR2-Encoded Cardiac Ryanodine Receptor in Sudden Unexplained Death: A Molecular Autopsy of 49 Medical Examiner/Coroner's Cases

✍ Tester, David J.; Spoon, Daniel B.; Valdivia, Hector H.; Makielski, Jonathan C.; 📂 Article 📅 2004 🏛 Mayo Clinic 🌐 English ⚖ 79 KB

Spectrum and prevalence of cardiac ryano

Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing

✍ Tester, David J.; Kopplin, Laura J.; Will, Melissa L.; Ackerman, Michael J. 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 166 KB

Physiological consequences of the P2328S

Physiological consequences of the P2328S mutation in the ryanodine receptor (RyR2) gene in genetically modified murine hearts

✍ C. A. Goddard; N. S. Ghais; Y. Zhang; A. J. Williams; W. H. Colledge; A. A. Grac 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 831 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

Postmortem molecular analysis of KCNQ1,

Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population

✍ Liu, Chao; Zhao, Qianhao; Su, Terry; Tang, Shuangbo; Lv, Guoli; Liu, Hong; Quan, 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 946 KB