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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...

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Detalles Bibliográficos
Autores principales: Koop, Andrea, Goldmann, Petra, Chen, S. R. Wayne, Thieleczek, Rolf, Varsányi, Magdolna
Formato: Texto
Lenguaje:English
Publicado: The Biophysical Society 2008
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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