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机译:一个新的突变与cold-aggravated家庭肌强直扰乱了Na(+)通道失活。
Department of Human Genetics, University of Pittsburgh, PA, USA.;
rism.gatech.edu;
Myotonia; Sodium Channels; MutationSCN4A geneMuscle WeaknessCommon ColdCOLDde novo Mutationmusclesfamily;
机译:a splice-site mutation leads to haploinsufficiency of EXT2 mRNa for a dominant trait in a large family with multiple osteochondromas.