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Keywords: diagnostics
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Essays Biochem (2018) 62 (3): 399–408.
Published: 27 June 2018
...Caterina Garone; Michal Minczuk; Sarah Louise Stenton; Holger Prokisch Mitochondrial diseases present a diagnostic challenge due to their clinical and genetic heterogeneity. Achieving comprehensive molecular diagnosis via a conventional candidate-gene approach is likely, therefore, to be labour...
Includes: Supplementary data