Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants

Homozygous calsequestrin 2 (CASQ2) point mutations leads to catecholaminergic polymorphic ventricular tachycardia: a common pathogenetic feature appears to be the drastic reduction of mutant CASQ2 in spite of normal transcription. Comparative biochemical analysis of R33Q and D307H knock in mutant mi...

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Detalles Bibliográficos
Autores principales: Valle, Giorgia, Arad, Michael, Volpe, Pompeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666291/
https://www.ncbi.nlm.nih.gov/pubmed/32902830
http://dx.doi.org/10.1007/s10974-020-09587-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666291/
https://www.ncbi.nlm.nih.gov/pubmed/32902830
http://dx.doi.org/10.1007/s10974-020-09587-2

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