换一批Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.
第一作者：
David P,Richman
第一单位：
Department of Neurology and Center for Neuroscience, University of California, Davis, CA 95616, USA. dprichman@ucdavis.edu
作者：
医学主题词
成年人(Adult);动物(Animals);儿童(Child);氯化物通道(Chloride Channels);氯化物(Chlorides);疾病恶化(Disease Progression);女(雌)性(Female);基因, 显性(Genes, Dominant);HEK293细胞(HEK293 Cells);人类(Humans);离子通道闸门(Ion Channel Gating);男(雄)性(Male);模型, 分子(Models, Molecular);肌痛性痉挛(Muscle Cramp);突变, 误义(Mutation, Missense);先天性肌强直(Myotonia Congenita);卵母细胞(Oocytes);系谱(Pedigree);点突变(Point Mutation);蛋白质构象(Protein Conformation);重组融合蛋白质类(Recombinant Fusion Proteins);转染(Transfection);光滑爪蟾(Xenopus laevis)
DOI
10.1007/s12017-012-8190-1
PMID
22790975
发布时间
2021-10-21
基金项目
R21NS071325-01/NS/NINDS NIH HHS/United States
R01 NS049117/NS/NINDS NIH HHS/United States
R01NS049117-01/NS/NINDS NIH HHS/United States
R56 GM065447/GM/NIGMS NIH HHS/United States
R01 GM065447/GM/NIGMS NIH HHS/United States
R01GM065447/GM/NIGMS NIH HHS/United States
R21 NS071325/NS/NINDS NIH HHS/United States
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Neuromolecular medicine
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