Article
Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.
Epileptic disorders : international epilepsy journal with videotape - 1 Dec 2017
Damiano John A, Do Hongdo, Ozturk Ezgi, Burgess Rosemary, Kalnins Renate, Jones Nigel C, Dobrovic Alexander, Berkovic Samuel F, Hildebrand Michael S
Abstract excerpt
Somatic mutation of the lissencephaly-1 gene is a cause of subcortical band heterotopia ("double cortex"). The severity of the phenotype depends on the level of mutation in brain tissue. Detecting and quantifying low-level somatic mosaic mutations is challenging. Here, we utilized droplet digital PCR, a sensitive method to detect low-level mutation. Droplet digital PCR was used in concert with classic genotyping...
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