Article
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Nature genetics - 1 Jan 2001
Liu H X, Cartegni L, Zhang M Q, Krainer A R
Abstract excerpt
Point mutations can generate defective and sometimes harmful proteins. The nonsense-mediated mRNA decay (NMD) pathway minimizes the potential damage caused by nonsense mutations. In-frame nonsense codons located at a minimum distance upstream of the last exon-exon junction are recognized as premature termination codons (PTCs), targeting the mRNA for degradation. Some nonsense mutations cause skipping of one or...
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