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Doctor Koichi Kato

Shiga University of Medical Science, Otsu (Japan)
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The dominant-negative effect of Loss of function Nav 1.5 variants is not a critical determinant of phenotype severity
Presentation
The dominant-negative effect of Loss of function Nav 1.5 variants is not a critical determinant of phenotype severity
Splice site mutation of LMNA causes severe dilated cardiomyopathy via strong dominant reduction of total lamin expression
Presentation
Splice site mutation of LMNA causes severe dilated cardiomyopathy via strong dominant reduction of total lamin expression

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