Browsing by Subject "Panel sequencing"
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Investigating gene mutations in a South African paediatric cohort diagnosed with mitochondrial disease
(North-West University (South Africa). Potchefstroom Campus, 2019)Mitochondrial diseases (MD) are a clinically heterogenous group of genetic disorders that affect the neuromuscular system, the central nervous system (collectively known as encephalomyopathies), and other high-energy ...