Article

Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

2020-08-28

Abstract excerpt

<h4>Background: </h4> Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is crucial for guiding disease management. In the current study, whole-exome sequencing (WES) was performed for our paediatric-onset MD cohort of a Southern Chinese origin,...

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Literature Corpus work: 61368f21-02c6-58a3-b92e-49929743b5d6
DOI: 10.21203/rs.3.rs-23585/v2

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