TR Cummins, J Zhou, FJ Sigworth, C Ukomadu… - Neuron, 1993 - Elsevier
Hyperkalemic periodic paralysis (HYPP), one of several inheritable myotonic diseases,
results from genetic defects in the human skeletal muscle Na+ channel. In some pedigrees,
HYPP is correlated with a single base pair substitution resulting in a Met replacing Thr 704
in the fifth transmembrane segment of the second domain. This region is totally conserved
between the human and rat channels. We have introduced the human mutation into the
corresponding region of the rat muscle Na+ channel cDNA and expressed it in human …
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