Lookup NU author(s): Professor Rita Horvath,
Professor Patrick Chinnery
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© 2018 Macmillan Publishers Ltd., part of Springer Nature Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing. There is now a strong rationale for undertaking first-line genome-wide sequencing, accelerating the speed of diagnosis and avoiding the need for expensive and invasive investigations.
Author(s): Raymond FL, Horvath R, Chinnery PF
Publication type: Article
Publication status: Published
Journal: Nature Reviews Genetics
Online publication date: 22/05/2018
Acceptance date: 02/04/2018
ISSN (print): 1471-0056
ISSN (electronic): 1471-0064
Publisher: Nature Publishing Group
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