Humana Press, Methods in Molecular Biology, p. 105-120, 2013
DOI: 10.1007/978-1-62703-438-8_8
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PCR amplification (followed by mutation scanning or direct sequencing) is a technique widely used in mutation detection and molecular studies of disease-causing genes, such as ARX. PCR amplification of high GC-rich regions encounters difficulties using conventional PCR procedures. Here, we present the strategies to amplify and sequence these GC-rich regions for the purposes of mutation screening and other molecular analyses. ; May H. Tan , Jozef Gécz , and Cheryl Shoubridge