Mitochondrial DNA mutant load in A3243G mutation and clinical correlation

被引:0
作者
Lee, H. [1 ]
Lee, Y. [2 ]
机构
[1] Yongin Severance Hosp, Yongin, South Korea
[2] Gangnam Severance Hosp, Seoul, South Korea
关键词
D O I
10.1016/j.nmd.2020.08.311
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P.314
引用
收藏
页码:S138 / S139
页数:2
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[21]   Low antioxidant content and mutation load in mitochondrial DNA A3243G mutation-related diabetes mellitus [J].
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[22]   MITOCHONDRIAL A3243G MUTATION LOAD IN DIFFERENT SAMPLES IN A FAMILY AFFECTED OF MELAS [J].
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Pineda, M. ;
Montero, R. ;
Artuch, R. ;
Vilaseca, M. A. ;
Ruiz-Pesini, E. ;
Montoya, J. .
JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 :S92-S92
[23]   The mitochondrial A3243G mutation presenting as severe cardiomyopathy [J].
Vilarinho, L ;
Santorelli, FM ;
Rosas, MJ ;
Tavares, C ;
MeloPires, M ;
DiMauro, S .
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[24]   Quantification of heteroplasmic A3243G mutation of mitochondrial DNA by realtime PCR. [J].
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Sengillo, Jesse D. ;
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Pavlic-Renar, I ;
Metelko, Z ;
Kusec, R ;
Boranic, M .
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[30]   Diabetes mellitus associated with the mitochondrial mutation A3243G:: Frequency and clinical presentation [J].
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Moises, Regina S. .
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