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

Bateman, J; Freddi, Susanna; Lamande, Shireen; Byers, Peter; Nasioulas, Stephen; Douglas, J G; Otway, R; Kohonen-Corish, M K; Edkins, Edward; Forrest, S


The protein truncation test (PTT) is a mutation-detection method used to scan for premature termination (nonsense) mutations. PCR amplification of the DNA or mRNA source material is performed using forward primers containing a T7-promoter sequence and translation initiation signals such that the resultant products can be transcribed and translated in vitro to identify the smaller truncated protein products, mRNA is commonly used as the source material, but success of the PTT and other RNA-based...[Show more]

CollectionsANU Research Publications
Date published: 1999
Type: Journal article
Source: Human Mutation
DOI: 10.1002/(SICI)1098-1004(1999)13:4<311::AID-HUMU8>3.0.CO;2-P


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