Journal of Huntington's disease
Molecular diagnosis of Huntington's disease in Trinidadian families via triplet repeat primed PCR, fragment analysis, and nanopore sequencing.
Shavana Nicole Rajkumar, Chris Gyan, Damion Basdeo, Nemal Gokool, Arianne Brown Jordan, Soren Nicholls, Vijay Pradeep, Rajini Rani Haraksingh
Published: 202610.1177/18796397251407656
Abstract
BackgroundHuntington's disease (HD) is a neurodegenerative disorder caused by CAG expansions in the Huntingtin (HTT) gene. Due to its non-specific and variable phenotype, diagnosis requires clinical assessments and genetic testing. In the Caribbean,…
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