Articles with "mutations r1623x" as a keyword



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Readthrough of SCN5A Nonsense Mutations p.R1623X and p.S1812X Questions Gene-therapy in Brugada Syndrome.

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Published in 2017 at "Current gene therapy"

DOI: 10.2174/1566523217666170529074758

Abstract: PURPOSE Nonsense mutation readthrough is used as a gene-specific treatment in some genetic diseases. The response to readthrough treatment is determined by the readthrough efficiency of various nonsense mutations. In this manuscript, we aimed to… read more here.

Keywords: sodium; r1623x s1812x; channel; mutations r1623x ... See more keywords