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Autor:
Morten Duno, Tina D. Jeppesen, Grete Andersen, Flemming Wibrand, John Vissing, Noor Al-Hashimi
Publikováno v:
Clinical Case Reports
Jeppesen, T D, Al-Hashimi, N, Duno, M, Wibrand, F, Andersen, G & Vissing, J 2017, ' Mitochondrial DNA mutation load in a family with the m.8344A >G point mutation and lipomas : a case study ', Clinical Case Reports, vol. 5, no. 12, pp. 2034-2039 . https://doi.org/10.1002/ccr3.1096
Jeppesen, T D, Al-Hashimi, N, Duno, M, Wibrand, F, Andersen, G & Vissing, J 2017, ' Mitochondrial DNA mutation load in a family with the m.8344A >G point mutation and lipomas : a case study ', Clinical Case Reports, vol. 5, no. 12, pp. 2034-2039 . https://doi.org/10.1002/ccr3.1096
Key Clinical Message 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 m