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ARVC-Related Mutations in Divergent Region 3 Alter Functional Properties of the Cardiac Ryanodine Receptor
Two single-nucleotide polymorphisms in the type 2 ryanodine receptor (RyR2) leading to the nonsynonymous amino acid replacements G1885E and G1886S are associated with arrhythmogenic right ventricular cardiomyopathy in patients who are carrying both of the corresponding RyR2 alleles. The functional p...
Autores principales: | Koop, Andrea, Goldmann, Petra, Chen, S. R. Wayne, Thieleczek, Rolf, Varsányi, Magdolna |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
The Biophysical Society
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2397357/ https://www.ncbi.nlm.nih.gov/pubmed/18326664 http://dx.doi.org/10.1529/biophysj.107.122382 |
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