Absence of p.R50X Pygm read-through in McArdle disease cellular models
McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We used three different cellular models to evaluate the efficiency of different read-through agents (including amlexanox, Ataluren, RTC13 and G...
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Автори: | , , , , , , , , , , , , , , , |
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Формат: | Книга |
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The Company of Biologists,
2020-01-01T00:00:00Z.
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A1234.567 |
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