An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

Author: Takano Kyoko   Liu Dan   Tarpey Patrick   Gallant Esther   Lam Alex   Witham Shawn   Alexov Emil   Chaubey Alka   Stevenson Roger E.   Schwartz Charles E.   Board Philip G.   Dulhunty Angela F.  

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.21, Iss.20, 2012-10, pp. : 4497-4507

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Abstract