Article
Expand Long PCR for fragile X mutation detection.
Clinical genetics - 1 Sept 1997
Hećimović S, Barisić I, Müller A, Petković I, Barić I, Ligutić I, Pavelić K
Abstract excerpt
Fragile X mutation detection by DNA analysis enables accurate diagnosis of the fragile X syndrome. The mutation involves the expansion of CGG repeats in the FMR1 gene and has been primarily detected by the Southern blotting method. In this study we present a novel, efficient and reliable PCR protocol that is more convenient for routine diagnosis of the fragile X syndrome. This method is based on the use of the...
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