{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T08:45:40Z","timestamp":1778661940507,"version":"3.51.4"},"reference-count":30,"publisher":"Elsevier BV","issue":"21-22","license":[{"start":{"date-parts":[[2010,11,1]],"date-time":"2010-11-01T00:00:00Z","timestamp":1288569600000},"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":[[2010,11]]},"DOI":"10.1016\/j.cca.2010.06.026","type":"journal-article","created":{"date-parts":[[2010,7,2]],"date-time":"2010-07-02T08:23:38Z","timestamp":1278059018000},"page":"1671-1674","source":"Crossref","is-referenced-by-count":15,"title":["Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR"],"prefix":"10.1016","volume":"411","author":[{"given":"Rui","family":"Bi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A-Mei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dandan","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong-Gang","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2010.06.026_bb0005","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/jmg.39.3.162","article-title":"Leber hereditary optic neuropathy","volume":"39","author":"Man","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0010","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.preteyeres.2003.10.003","article-title":"Mitochondrial dysfunction as a cause of optic neuropathies","volume":"23","author":"Carelli","year":"2004","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.cca.2010.06.026_bb0015","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.preteyeres.2006.05.002","article-title":"Leber's hereditary optic neuropathy: a multifactorial disease","volume":"25","author":"Yen","year":"2006","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.cca.2010.06.026_bb0020","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/ana.21217","article-title":"Prevalence of mitochondrial DNA disease in adults","volume":"63","author":"Schaefer","year":"2008","journal-title":"Ann Neurol"},{"key":"10.1016\/j.cca.2010.06.026_bb0025","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1086\/346066","article-title":"The epidemiology of Leber hereditary optic neuropathy in the North East of England","volume":"72","author":"Man","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0030","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1038\/sj.ejhg.5201828","article-title":"Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland","volume":"15","author":"Puomila","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0035","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/j.cca.2010.06.026_bb0040","first-page":"481","article-title":"Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy","volume":"59","author":"Mackey","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0045","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1016\/0006-291X(92)90479-5","article-title":"An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy","volume":"187","author":"Johns","year":"1992","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.cca.2010.06.026_bb0050","first-page":"1147","article-title":"A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy","volume":"48","author":"Huoponen","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0055","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1007\/s10038-006-0032-2","article-title":"Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy","volume":"51","author":"Jia","year":"2006","journal-title":"J Hum Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0060","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1086\/519394","article-title":"Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background","volume":"81","author":"Hudson","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0065","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1001\/archopht.1993.01090110052022","article-title":"Heteroplasmy in Leber's hereditary optic neuropathy","volume":"111","author":"Smith","year":"1993","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.cca.2010.06.026_bb0070","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/1096-8628(20010122)98:3<235::AID-AJMG1086>3.0.CO;2-O","article-title":"Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?","volume":"98","author":"Chinnery","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0075","first-page":"1208","article-title":"Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy","volume":"42","author":"Jacobi","year":"2001","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.cca.2010.06.026_bb0080","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1146\/annurev.biochem.76.060305.152028","article-title":"DNA replication and transcription in mammalian mitochondria","volume":"76","author":"Falkenberg","year":"2007","journal-title":"Annu Rev Biochem"},{"key":"10.1016\/j.cca.2010.06.026_bb0085","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/j.ajhg.2008.07.004","article-title":"Pathogenic mitochondrial DNA mutations are common in the general population","volume":"83","author":"Elliott","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0090","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/0006-291X(91)91612-G","article-title":"Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming","volume":"175","author":"N\u00f8rby","year":"1991","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.cca.2010.06.026_bb0095","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/humu.1380020412","article-title":"Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification","volume":"2","author":"N\u00f8rby","year":"1993","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2010.06.026_bb0100","first-page":"349","article-title":"Rapid genetic analysis in the diagnosis of primary Leber's hereditary optic neuropathy by using multiplex allele-specific polymerase chain reaction (MAS-PCR) with whole blood","volume":"8","author":"Yang","year":"2006","journal-title":"Chin. J. Optom. Ophthalmol."},{"key":"10.1016\/j.cca.2010.06.026_bb0105","doi-asserted-by":"crossref","unstructured":"Yu D, Jia X, Zhang AM, et al. Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. Neurogenetics 2010;11:349\u201356.","DOI":"10.1007\/s10048-010-0236-7"},{"key":"10.1016\/j.cca.2010.06.026_bb0110","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.ajhg.2008.11.002","article-title":"Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G>A mutation","volume":"83","author":"Ji","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0115","first-page":"538","article-title":"The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells","volume":"31","author":"Bi","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2010.06.026_bb0120","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0125","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/0009-9120(95)00035-8","article-title":"Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis","volume":"28","author":"Jaksch","year":"1995","journal-title":"Clin Biochem"},{"key":"10.1016\/j.cca.2010.06.026_bb0130","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.cca.2008.12.010","article-title":"Two-round allele specific-polymerase chain reaction: a simple and highly sensitive method for JAK2V617F mutation detection","volume":"401","author":"Kannim","year":"2009","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2010.06.026_bb0135","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.cccn.2003.12.029","article-title":"Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak","volume":"343","author":"Sanchaisuriya","year":"2004","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2010.06.026_bb0140","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1136\/bjo.80.10.915","article-title":"Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation","volume":"80","author":"Black","year":"1996","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.cca.2010.06.026_bb0145","first-page":"203","article-title":"A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation","volume":"55","author":"Howell","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2010.06.026_bb0150","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<412::AID-HUMU6>3.0.CO;2-5","article-title":"Tissue distribution of the ND4\/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy","volume":"9","author":"Juvonen","year":"1997","journal-title":"Hum Mutat"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898110004341?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898110004341?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T17:29:09Z","timestamp":1559237349000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898110004341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11]]},"references-count":30,"journal-issue":{"issue":"21-22","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["S0009898110004341"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2010.06.026","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2010,11]]}}}