Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

Title
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction
Authors
Keywords
Mitochondrial diseases, Gene panel, mtDNA, Nuclear genes, Next generation sequencing, Respiratory chain
Journal
MITOCHONDRION
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2019-03-02
DOI
10.1016/j.mito.2019.02.006

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