Article
Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.
Acta physiologica (Oxford, England) - 1 Dec 2008
Zhang Y, Wang T, Ma A, Zhou X, Gui J, Wan H, Shi R, Huang C, Grace A A, Huang C L-H, Trump D, Zhang H, Zimmer T, Lei M
Abstract excerpt
AIM: We compared the clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in domain II (S5-S6) of human, hNa(v)1.5, cardiac Na(+) channels. METHODS: Full clinical evaluation of pedigree members through three generations of a Chinese family combine...
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