Article
The protein truncation test: A review.
Human mutation - 1 Jan 1999
Den Dunnen J T, Van Ommen G J
Abstract excerpt
Only changes in the DNA sequence manifesting deleterious effects at a functional level provide "disease-causing" mutations. Consequently, mutation-scanning techniques applied on a protein level would be most informative. However, because of a lack of functional knowledge and powerful methods, most currently applied techniques try to resolve mutations at the DNA level. The protein truncation test (PTT) provides a...
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