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Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method… Click to show full abstract
Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.
Keywords:
patient cells;
biology;
skipping patient;
dysferlin exon;
exon skipping
Journal Title: Methods in molecular biology
Year Published: 2018
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Journal Title: Methods in molecular biology
Year Published: 2018
Link to full text (if available)
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recommendations!