Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Standard

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas : a case study. / Jeppesen, Tina Dysgaard; Al-Hashimi, Noor; Duno, Morten; Wibrand, Flemming; Andersen, Grete; Vissing, John.

I: Clinical Case Reports, Bind 5, Nr. 12, 12.2017, s. 2034-2039.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Jeppesen, TD, 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, bind 5, nr. 12, s. 2034-2039. https://doi.org/10.1002/ccr3.1096

APA

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, 5(12), 2034-2039. https://doi.org/10.1002/ccr3.1096

Vancouver

Jeppesen TD, Al-Hashimi N, Duno M, Wibrand F, Andersen G, Vissing J. Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study. Clinical Case Reports. 2017 dec.;5(12):2034-2039. https://doi.org/10.1002/ccr3.1096

Author

Jeppesen, Tina Dysgaard ; Al-Hashimi, Noor ; Duno, Morten ; Wibrand, Flemming ; Andersen, Grete ; Vissing, John. / Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas : a case study. I: Clinical Case Reports. 2017 ; Bind 5, Nr. 12. s. 2034-2039.

Bibtex

@article{c3103600a4294f158f3087d5eabea9ec,
title = "Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study",
abstract = "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.",
author = "Jeppesen, {Tina Dysgaard} and Noor Al-Hashimi and Morten Duno and Flemming Wibrand and Grete Andersen and John Vissing",
year = "2017",
month = dec,
doi = "10.1002/ccr3.1096",
language = "English",
volume = "5",
pages = "2034--2039",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "JohnWiley & Sons Ltd",
number = "12",

}

RIS

TY - JOUR

T1 - Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas

T2 - a case study

AU - Jeppesen, Tina Dysgaard

AU - Al-Hashimi, Noor

AU - Duno, Morten

AU - Wibrand, Flemming

AU - Andersen, Grete

AU - Vissing, John

PY - 2017/12

Y1 - 2017/12

N2 - 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.

AB - 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.

U2 - 10.1002/ccr3.1096

DO - 10.1002/ccr3.1096

M3 - Journal article

C2 - 29225851

VL - 5

SP - 2034

EP - 2039

JO - Clinical Case Reports

JF - Clinical Case Reports

SN - 2050-0904

IS - 12

ER -

ID: 196371381