Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

John F. Bateman, Susanna Freddi, Shireen R. Lamandé, Peter Byers, Steven Nasioulas, Jenny Douglas, Robyn Otway, Maija Kohonen-Corish, Edward Edkins, Susan Forrest

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56 Citations (Scopus)

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Medicine & Life Sciences