- Determination of SMN1 and SMN2 Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification
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Yoon S, Lee CH, Lee KA
- KMID: 1096826
- Korean J Lab Med.
- 2010 Feb;30(1):93-96.
- doi: 10.3343/kjlm.2010.30.1.93
Determination of the copy number of the survival motor neuron (SMN) gene is important for detecting spinal muscular atrophy (SMA) carriers and compound heterozygous patients. Multiplex ligationdependent probe amplification (MLPA)... -
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- Clinical implications of copy number variations in autoimmune disorders
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Yim SH, Jung SH, Chung B, Chung YJ
- KMID: 2160701
- Korean J Intern Med.
- 2015 May;30(3):294-304.
- doi: 10.3904/kjim.2015.30.3.294
Human genetic variation is represented by the genetic differences both within and among populations, and most genetic variants do not cause overt diseases but contribute to disease susceptibility and influence... -
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- Higher mitochondrial DNA copy number is associated with lower prevalence of microalbuminuria
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Lee JE, Park H, Ju YS, Kwak M, Kim JI, Oh HY, Seo JS
- KMID: 1088600
- Exp Mol Med.
- 2009 Apr;41(4):253-258.
- doi: 10.3858/emm.2009.41.4.028
It has been suggested that mitochondrial dysfunction contributes to the initiation and development of atherosclerosis and cardiovascular disease. We examined the association between mitochondrial DNA (mtDNA) copy number and microalbuminuria... -
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