Dysferlin Exon 32 Skipping in Patient Cells
Author:
Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4939-8651-4_31
Reference7 articles.
1. Dominski Z, Kole R (1993) Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc Natl Acad Sci U S A 90(18):8673–8677
2. Pramono ZA, Takeshima Y, Alimsardjono H et al (1996) Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence. Biochem Biophys Res Commun 226(2):445–449
3. van Roon-Mom WM, Aartsma-Rus A (2012) Overview on applications of antisense-mediated exon skipping. Methods Mol Biol 867:79–96. "https://doi.org/10.1007/978-1-61779-767-5_6"
4. Sinnreich M, Therrien C, Karpati G (2006) Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. Neurology 66(7):1114–1116. “ https://doi.org/10.1212/01.wnl.0000204358.89303.81 ”
5. Wein N, Avril A, Bartoli M et al (2010) Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum Mutat 31(2):136–142
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