Regular ArticleWhole Mitochondrial Genome Amplification Reveals Basal Level Multiple Deletions in mtDNA of Patients with Dilated Cardiomyopathy
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Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsPresent and future of rapid and/or high-throughput methods for nucleic acid testing
2006, Clinica Chimica ActaDetection of mtDNA with 4977 bp deletion in blood cells and atherosclerotic lesions of patients with coronary artery disease
2005, Mutation Research - Fundamental and Molecular Mechanisms of MutagenesisPediatric cardiology in the genomic era
2004, Revista Espanola de CardiologiaHuman Complex I Defects Can Be Resolved by Monoclonal Antibody Analysis into Distinct Subunit Assembly Patterns
2001, Journal of Biological ChemistryCitation Excerpt :These are T14484C, G14459A (mutations in the mitochondrial complex I subunit ND6), G11778A (mutation in the mitochondrial complex I subunit ND4), T4160C and G3460A (mutations in the mitochondrial complex I subunit ND1), T8993G/C (mutation in the mitochondrial ATPase subunit 6) and T8356C, A8344G, A4317G, T3271C, and A3243G (mutations in the mitochondrial tRNA genes). Large mtDNA rearrangements were ruled out by a previously developed long-template PCR technique (21). None of the above mtDNA alterations were found.
Large-scale mitochondrial DNA deletions in skeletal muscle of patients with end-stage renal disease
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