Article
Mutation detection in the breast cancer gene BRCA1 using the protein truncation test.
Molecular biotechnology - 1 Feb 2000
Moore W, Bogdarina I, Patel U A, Perry M, Crane-Robinson C
Abstract excerpt
About 400 distinct mutations have been defined in the BRCA1 gene, and these are spread fairly evenly through the 5592 bp of coding DNA. This circumstance presents a formidable challenge for mutation screening. Apart from total direct sequencing, the preferred screening method has been single-strand conformation polymorphism (SSCP) gels, with a smaller input from constant denaturant gradient electrophoresis...
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