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

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Bibtex

@article{aadd345508b7472fb85457ff84990d5f,
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.",
keywords = "Journal Article",
author = "Jeppesen, {Tina Dysgaard} and Noor Al-Hashimi and Morten Duno and Flemming Wibrand and Grete Andersen and John Vissing",
year = "2017",
month = "12",
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.

KW - Journal Article

U2 - 10.1002/ccr3.1096

DO - 10.1002/ccr3.1096

M3 - Journal article

VL - 5

SP - 2034

EP - 2039

JO - Clinical Case Reports

JF - Clinical Case Reports

SN - 2050-0904

IS - 12

ER -

ID: 52147319