{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T22:02:48Z","timestamp":1779919368282,"version":"3.53.1"},"reference-count":13,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T00:00:00Z","timestamp":1576195200000},"content-version":"vor","delay-in-days":3087,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Molecular Diagnostics"],"published-print":{"date-parts":[[2011,7]]},"DOI":"10.1016\/j.jmoldx.2011.02.005","type":"journal-article","created":{"date-parts":[[2011,6,26]],"date-time":"2011-06-26T07:44:18Z","timestamp":1309074258000},"page":"401-405","source":"Crossref","is-referenced-by-count":16,"title":["Identification of Recombinant Alleles Using Quantitative Real-Time PCR"],"prefix":"10.1016","volume":"13","author":[{"given":"Arash","family":"Velayati","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie A.","family":"Knight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara K.","family":"Stubblefield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Sidransky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nahid","family":"Tayebi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jmoldx.2011.02.005_bib1","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/BF00279398","article-title":"Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies","volume":"64","author":"Barneveld","year":"1993","journal-title":"Hum Genet"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib2","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1101\/gr.7.10.1020","article-title":"Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease","volume":"7","author":"Winfield","year":"1997","journal-title":"Genome Res"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib3","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/0888-7543(89)90319-4","article-title":"The human glucocerebrosidase gene and pseudogene: structure and evolution","volume":"4","author":"Horowitz","year":"1989","journal-title":"Genomics"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib4","doi-asserted-by":"crossref","first-page":"6510","DOI":"10.1074\/jbc.272.10.6510","article-title":"Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion","volume":"272","author":"Armstrong","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib5","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1006\/geno.1996.0181","article-title":"Structure and organization of the human metaxin gene (MTX) and pseudogene","volume":"33","author":"Long","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib6","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1038\/ng1097-154","article-title":"Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome","volume":"17","author":"Chen","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib7","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1101\/gr.8.10.1007","article-title":"Pathological consequences of sequence duplications in the human genome","volume":"8","author":"Mazzarella","year":"1998","journal-title":"Genome Res"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib8","doi-asserted-by":"crossref","unstructured":"Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E: Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet 72, 519\u2013534","DOI":"10.1086\/367850"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib9","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1002\/humu.20676","article-title":"Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)","volume":"29","author":"Hruska","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib10","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S","article-title":"Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease","volume":"15","author":"Stone","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib11","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ymgme.2009.10.189","article-title":"In silico and functional studies of the regulation of the glucocerebrosidase gene","volume":"99","author":"Blech-Hermoni","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib12","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.ymgme.2009.12.017","article-title":"False-positive results using a Gaucher diagnostic kit\u2014RecTL and N370S","volume":"100","author":"Choi","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jmoldx.2011.02.005_bib13","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1006\/bcmd.2002.0535","article-title":"High prevalence of the 55-bp deletion (c. 1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c. 1226A > G) mutation) in Spanish Gaucher disease patients","volume":"29","author":"Torralba","year":"2002","journal-title":"Blood Cells Mol Dis"}],"container-title":["The Journal of Molecular Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157811000936?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157811000936?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T12:38:20Z","timestamp":1576240700000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525157811000936"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["S1525157811000936"],"URL":"https:\/\/doi.org\/10.1016\/j.jmoldx.2011.02.005","relation":{},"ISSN":["1525-1578"],"issn-type":[{"value":"1525-1578","type":"print"}],"subject":[],"published":{"date-parts":[[2011,7]]}}}