{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:49:55Z","timestamp":1773791395157,"version":"3.50.1"},"reference-count":32,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2008,4,1]],"date-time":"2008-04-01T00:00:00Z","timestamp":1207008000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2008,4]]},"DOI":"10.1016\/j.cca.2008.01.010","type":"journal-article","created":{"date-parts":[[2008,1,18]],"date-time":"2008-01-18T12:13:23Z","timestamp":1200658403000},"page":"126-133","source":"Crossref","is-referenced-by-count":12,"title":["Real-time detection and quantification of mitochondrial mutations with oligonucleotide primers containing locked nucleic acid"],"prefix":"10.1016","volume":"390","author":[{"given":"Harald","family":"Strand","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ole Christian","family":"Ingebretsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d8ivind","family":"Nilssen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2008.01.010_bib1","doi-asserted-by":"crossref","first-page":"D611","DOI":"10.1093\/nar\/gki079","article-title":"MITOMAP: a human mitochondrial genome database\u20142004 update","volume":"33","author":"Brandon","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.cca.2008.01.010_bib2","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/348651a0","article-title":"A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies","volume":"348","author":"Goto","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.cca.2008.01.010_bib3","doi-asserted-by":"crossref","first-page":"746","DOI":"10.2337\/diabetes.43.6.746","article-title":"Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene","volume":"43","author":"van den Ouweland","year":"1994","journal-title":"Diabetes"},{"key":"10.1016\/j.cca.2008.01.010_bib4","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1086\/301959","article-title":"Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population","volume":"63","author":"Majamaa","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2008.01.010_bib5","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/ajmg.a.30220","article-title":"Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis","volume":"130A","author":"Shanske","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.cca.2008.01.010_bib6","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ana.410310408","article-title":"MELAS: clinical features, biochemistry, and molecular genetics","volume":"31","author":"Ciafaloni","year":"1992","journal-title":"Ann Neurol"},{"key":"10.1016\/j.cca.2008.01.010_bib7","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1111\/j.1600-0404.2004.00254.x","article-title":"A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation","volume":"110","author":"Mancuso","year":"2004","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.cca.2008.01.010_bib8","first-page":"428","article-title":"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy","volume":"46","author":"Holt","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2008.01.010_bib9","first-page":"852","article-title":"Heteroplasmic mtDNA mutation (T\u2013G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high","volume":"50","author":"Tatuch","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2008.01.010_bib10","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1023\/A:1005639407166","article-title":"Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation","volume":"22","author":"White","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.cca.2008.01.010_bib11","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1016\/0006-291X(91)91900-W","article-title":"Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients","volume":"179","author":"Tanno","year":"1991","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.cca.2008.01.010_bib12","doi-asserted-by":"crossref","first-page":"2155","DOI":"10.1093\/clinchem\/48.12.2155","article-title":"Design and use of a peptide nucleic acid for detection of the heteroplasmic low-frequency mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation in human mitochondrial DNA","volume":"48","author":"Hancock","year":"2002","journal-title":"Clin Chem"},{"key":"10.1016\/j.cca.2008.01.010_bib13","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1093\/clinchem\/43.10.1857","article-title":"Direct detection of multiple point mutations in mitochondrial DNA","volume":"43","author":"Wong","year":"1997","journal-title":"Clin Chem"},{"key":"10.1016\/j.cca.2008.01.010_bib14","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1373\/clinchem.2004.031153","article-title":"Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach","volume":"50","author":"Bai","year":"2004","journal-title":"Clin Chem"},{"key":"10.1016\/j.cca.2008.01.010_bib15","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.ymgme.2004.10.008","article-title":"Single cell quantification of the 8993T > G NARP mitochondrial DNA mutation by fluorescent PCR","volume":"84","author":"Gigarel","year":"2005","journal-title":"Molec Genet Metab"},{"key":"10.1016\/j.cca.2008.01.010_bib16","doi-asserted-by":"crossref","first-page":"225","DOI":"10.2353\/jmoldx.2006.050067","article-title":"Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A > G mitochondrial point mutation","volume":"8","author":"Singh","year":"2006","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.cca.2008.01.010_bib17","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1196\/annals.1293.024","article-title":"Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach","volume":"1011","author":"Wong","year":"2004","journal-title":"Ann NY Acad Sci"},{"key":"10.1016\/j.cca.2008.01.010_bib18","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/S1525-1578(10)60595-8","article-title":"Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease","volume":"7","author":"Bai","year":"2005","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.cca.2008.01.010_bib19","doi-asserted-by":"crossref","first-page":"R244","DOI":"10.1093\/hmg\/ddl233","article-title":"Mitochondrial DNA polymerase-{gamma} and human disease","volume":"15","author":"Hudson","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.cca.2008.01.010_bib20","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1136\/jmg.2006.043109","article-title":"Depletion of mitochondrial DNA in leucocytes harbouring the 3243A\u2192G mtDNA mutation","volume":"44","author":"Pyle","year":"2007","journal-title":"J Med Genet"},{"key":"10.1016\/j.cca.2008.01.010_bib21","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1534\/genetics.105.043653","article-title":"Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma cybrids","volume":"170","author":"Turner","year":"2005","journal-title":"Genetics"},{"key":"10.1016\/j.cca.2008.01.010_bib22","doi-asserted-by":"crossref","first-page":"e32","DOI":"10.1093\/nar\/gnh036","article-title":"Strong positional preference in the interaction of LNA oligonucleotides with DNA polymerase and proofreading exonuclease activities: implications for genotyping assays","volume":"32","author":"Di Giusto","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.cca.2008.01.010_bib23","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1002\/humu.10228","article-title":"Enhanced allele-specific PCR discrimination in SNP genotyping using 3\u2032 locked nucleic acid (LNA) primers","volume":"22","author":"Latorra","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2008.01.010_bib24","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1006\/abio.1997.2177","article-title":"Characterization of PicoGreen reagent and development of a fluorescence-based solution assay for double-stranded DNA quantitation","volume":"249","author":"Singer","year":"1997","journal-title":"Anal Biochem"},{"key":"10.1016\/j.cca.2008.01.010_bib25","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/S0140-6736(97)05005-8","article-title":"Recurrent strokes in a 34-year-old man","volume":"350","author":"Chinnery","year":"1997","journal-title":"Lancet"},{"key":"10.1016\/j.cca.2008.01.010_bib26","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.diabres.2003.10.024","article-title":"Lipoma and opthalmoplegia in mitochondrial diabetes associated with small heteroplasmy level of 3243 tRNALeu(UUR) mutation","volume":"63","author":"Suzuki","year":"2004","journal-title":"Diabetes Res Clin Pract"},{"key":"10.1016\/j.cca.2008.01.010_bib27","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/ng1769","article-title":"High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease","volume":"38","author":"Bender","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.cca.2008.01.010_bib28","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1038\/ng1778","article-title":"Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons","volume":"38","author":"Kraytsberg","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.cca.2008.01.010_bib29","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1373\/49.8.1309","article-title":"Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis","volume":"49","author":"Chabi","year":"2003","journal-title":"Clin Chem"},{"key":"10.1016\/j.cca.2008.01.010_bib30","series-title":"Gene quantification","first-page":"111","article-title":"Statistical estimations of PCR amplification rates","author":"Peccoud","year":"1998"},{"key":"10.1016\/j.cca.2008.01.010_bib31","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1006\/bbrc.1998.8666","article-title":"Coamplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations","volume":"247","author":"Parfait","year":"1998","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.cca.2008.01.010_bib32","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1093\/nar\/gkm010","article-title":"DNA supercoiling suppresses real-time PCR: a new approach to the quantification of mitochondrial DNA damage and repair","volume":"35","author":"Chen","year":"2007","journal-title":"Nucleic Acids Res"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898108000247?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898108000247?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T22:34:11Z","timestamp":1588286051000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898108000247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4]]},"references-count":32,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2008,4]]}},"alternative-id":["S0009898108000247"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2008.01.010","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2008,4]]}}}