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Region Hovedstaden - en del af Københavns Universitetshospital
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Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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Vis graf over relationer

Studies have shown that difference in mtDNA mutation load among tissues is a result of postnatal modification. We present five family members with the m.8344A>G with variable phenotypes but uniform intrapersonal distribution of mutation load, indicating that there is no postnatal modification of mtDNA mutation load in this genotype.

OriginalsprogEngelsk
TidsskriftAACE clinical case reports
Vol/bind5
Udgave nummer12
Sider (fra-til)2034-2039
Antal sider6
ISSN2376-0605
DOI
StatusUdgivet - dec. 2017

ID: 52147319