LONG QT SYNDROME 2; LQT2

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Summary

Literature (2)

Literature for OMIM 613688: LONG QT SYNDROME 2; LQT2

Xenbase Articles:
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Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome., Ficker E,Thomas D,Viswanathan PC,Dennis AT,Priori SG,Napolitano C,Memmi M,Wible BA,Kaufman ES,Iyengar S,Schwartz PJ,Rudy Y,Brown AM, Am J Physiol Heart Circ Physiol. October 1, 2000; 279(4):0363-6135.
The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT., Mechakra A,Vincent Y,Chevalier P,Millat G,Ficker E,Jastrzebski M,Poulin H,Pouliot V,Chahine M,Christé G, Gene. February 25, 2014; 536(2):1879-0038.

Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome., Ficker E,Thomas D,Viswanathan PC,Dennis AT,Priori SG,Napolitano C,Memmi M,Wible BA,Kaufman ES,Iyengar S,Schwartz PJ,Rudy Y,Brown AM, Am J Physiol Heart Circ Physiol. October 1, 2000; 279(4):0363-6135.

The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT., Mechakra A,Vincent Y,Chevalier P,Millat G,Ficker E,Jastrzebski M,Poulin H,Pouliot V,Chahine M,Christé G, Gene. February 25, 2014; 536(2):1879-0038.