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Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blo...

Ribeiro, Diogo; Cardoso, Ana; Duarte, Ana Joana; Vieira, Luís; Amaral, Olga

DR and AJD were FCT research grantees (PIC/IC/82822/2007) ; Development of a simple mutation directed method in order to allow lowering the cost of mutation testing using an easily obtainable biological material. Assessment of the feasibility of such method was tested using a GC-rich amplicon. A method of denaturing high-performance liquid chromatography (dHPLC) was improved and implemented as a technique for ...


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