A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping

Limb-girdle muscular dystrophy type 2C is caused by autosomal recessive mutations in the γ-sarcoglycan (SGCG) gene. The most common SGCG mutation is a single nucleotide deletion from a stretch of five thymine residues in SGCG exon 6 (521ΔT). This founder mutation disrupts the transcript reading fram...

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Vydáno v:Dis Model Mech
Hlavní autoři: Demonbreun, Alexis R., Wyatt, Eugene J., Fallon, Katherine S., Oosterbaan, Claire C., Page, Patrick G., Hadhazy, Michele, Quattrocelli, Mattia, Barefield, David Y., McNally, Elizabeth M.
Médium: Artigo
Jazyk:Inglês
Vydáno: The Company of Biologists Ltd 2019
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906631/
https://ncbi.nlm.nih.gov/pubmed/31582396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.040832
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