期刊
JOURNAL OF CLINICAL INVESTIGATION
卷 115, 期 8, 页码 2033-2038出版社
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI25664
关键词
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Here we review the current knowledge about the mutations of the gene encoding the cardiac ryanodine receptor (RyR2) that cause cardiac arrhythmias. Similarities between the mutations identified in the RyR2 gene and those found in the gene RyR1 that cause malignant hyperthermia and central core disease are discussed. In vitro functional characterization of RyR1 and RyR2 mutants is reviewed, with a focus on the contribution that in vitro expression studies have made to our understanding of related human diseases.
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