Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Frontiers in Genetics - Tập 9 - Trang 381877 - 2018
Theunissen, Tom E. J.1, Nguyen, Minh1, Kamps, Rick1, Mulder-Den Hartog, Elvira N. M.2, Schoonderwoerd, Kees3, Fuchs, Sabine A.4, Vanoevelen, Jo1, Szklarczyk, Radek1, Gerards, Mike1, Smeets, Hubert J. M.1
1Department of Genetics and Cell Biology, Maastricht University Medical Centre, Netherlands
2Department of Pediatric Neurology, Erasmus MC Sophia Children's Hospital, Netherlands
3Department of Clinical Genetics, Netherlands
4Department of Metabolic Disorders, University Medical Centre Utrecht, Netherlands

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#mitochondrial disease; Next-generation sequencing; mtDNA sequencing; Whole-exome sequencing; diagnostic yield

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Frontiers in Genetics

Tập 9

381877

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