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Article

Localization of a disease-associated mutation site in the three-dimensional structure of the cardiac muscle ryanodine receptor.

The Journal of biological chemistry - 11 Nov 2005

Liu Zheng, Wang Ruiwu, Zhang Jing, Chen S R Wayne, Wagenknecht Terence

Abstract excerpt

The cardiac muscle ryanodine receptor (RyR2) functions as a calcium release channel in the heart. Up to 40 mutations in RyR2 have been linked to genetic forms of sudden cardiac death. These mutations are largely clustered in three regions of the sequence of the polypeptide: one near the N terminus, one in the central region, and the third in the C-terminal region. The central region includes 11 mutations, and an...

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Identifiers

PMID: 16157601
DOI: 10.1074/jbc.M505714200
PMCID: PMC1470666

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Localization of a disease-associated mutation site in the three-dimensional structure of the cardiac muscle ryanodine receptor.PMID 16157601Read ↗

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