mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Mitochondrial disease associated with the pathogenic m.3243A>G variant is a common, clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear mixed modelling, we evaluated which commonly assayed tissue (blood
N
= 231, urine
N
= 235, skeletal muscle
N
= 77) represents the m.3243A>G mutation loa...
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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
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TN_cdi_doaj_primary_oai_doaj_org_article_e496d73f1f704078b7f8eb4c8e4abe2a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e496d73f1f704078b7f8eb4c8e4abe2a
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ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201708262
