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Common nonsense mutations in RAD52.
Cancer research, 1999RAD51, RAD52, and RAD54 encode proteins that are critical to the repair of double-strand DNA breaks by homologous recombination. The physical interactions among the products of RAD51, BRCA1, and BRCA2 have suggested that the BRCA1 and BRCA2 breast cancer susceptibility genes may function, at least in part, in this DNA damage repair pathway.
D W, Bell +8 more
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PTC124, nonsense mutations and Duchenne muscular dystrophy
Neuromuscular Disorders, 2007What the journals ...
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Translational readthrough induction of pathogenic nonsense mutations
European Journal of Medical Genetics, 2006The treatment of genetic disorders is one of the biggest challenges lying ahead of modern medicine. While major advancements have been made in gene therapy, it is still far from achieving clinical success. However, other potential methods for treating single gene related diseases have also emerged recently.
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Nonsense mutations and diminished mRNA levels
Nature Genetics, 1993I, McIntosh, A, Hamosh, H C, Dietz
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Suppressor genes for nonsense mutations
Journal of Molecular Biology, 1965Alan Garen +2 more
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Polypeptide products of nonsense mutations
Journal of Molecular Biology, 1970Sherie L. Morrison, David Zipser
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Polypeptide products of nonsense mutations
Journal of Molecular Biology, 1971Sherie L. Morrison +2 more
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Pharmacological approaches for targeting cystic fibrosis nonsense mutations
European Journal of Medicinal Chemistry, 2020Steven M Rowe, Kim M Keeling
exaly