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首页> Archives of biochemistry and biophysics> The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency.

The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency.

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作者： Sabine J,van Dijk ^[1] ; Kristina,Bezold Kooiker ^[2] ; Stacy,Mazzalupo ^[3] ; Yuanzhang,Yang ^[3] ; Alla S,Kostyukova ^[4] ; Debbie J,Mustacich ^[3] ; Elaine R,Hoye ^[2] ; Joshua A,Stern ^[5] ; Mark D,Kittleson ^[5] ; Samantha P,Harris ^[3]

作者单位： Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA. Electronic address: sjvandijk@email.arizona.edu. ^[1] Department of Neurobiology, Physiology and Behavior, University of California, Davis, CA, USA. ^[2] Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA. ^[3] Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, WA, USA. ^[4] Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, CA, USA. ^[5]

关键词 Animal models of cardiac disease Hypertrophic cardiomyopathy Missense mutation cMyBP-C

主题词丙氨酸(Alanine);动物(Animals);心肌病, 肥厚性(Cardiomyopathy, Hypertrophic);载体蛋白质类(Carrier Proteins);猫(Cats);圆二色性(Circular Dichroism);密码子, 终止(Codon, Terminator);单倍剂量不足(Haploinsufficiency);心脏(Heart);免疫组织化学(Immunohistochemistry);肌细胞(Muscle Cells);突变(Mutation);突变, 误义(Mutation, Missense);心肌(Myocardium);脯氨酸(Proline);蛋白质构象(Protein Conformation);蛋白质结构, 二级(Protein Structure, Secondary);重组蛋白质类(Recombinant Proteins);肌节(Sarcomeres)

DOI 10.1016/j.abb.2016.01.006

PMID 26777460

发布时间 2018-11-13

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Archives of biochemistry and biophysics

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