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1999, Pubmed
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Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning.
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Pubmed Adzhubei,
A method and server for predicting damaging missense mutations.
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A global reference for human genetic variation.
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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
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Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
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De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
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Analysis of protein-coding genetic variation in 60,706 humans.
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Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
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