Different approaches to molecular scanning of point mutations in genetic diseases

Research output: Contribution to journalArticle


Several advanced techniques to detect mutations have been developed during the last years. Scanning procedures can be classified as "physical" and "cleavage" methodologies. Physical methods include Denaturing Gradient Gel Electrophoresis, Single-Strand Conformation Polymorphism and Heteroduplex Analysis while cleavage methods include RNAse A Cleavage, Chemical Mismatch Cleavage and Enzyme Mismatch Cleavage. A related technique, Protein Truncation Test, has been recently introduced.

Original languageEnglish
Pages (from-to)1913-1918
Number of pages6
JournalPure and Applied Chemistry
Issue number10
Publication statusPublished - Oct 1996


ASJC Scopus subject areas

  • Chemistry(all)

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