Article
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Gene - 1 Jan 2013
Raymond Laure, Diebold Bertrand, Leroux Céline, Maurey Hélène, Drouin-Garraud Valérie, Delahaye Andre, Dulac Olivier, Metreau Julia, Melikishvili Gia, Toutain Annick, Rivier François, Bahi-Buisson Nadia, Bienvenu Thierry
Abstract excerpt
Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been predominantly described in epileptic encephalopathies of female, including infantile spasms with Rett-like features. Up to now, detection of mutations in this gene was made by laborious, expensive and/or time consuming methods. Here, we decided to validate high-resolution melting analysis (HRMA) for mutation scanning of the CDKL5 gene....
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