{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:57:04Z","timestamp":1791269824993,"version":"4.1.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2003,9,24]],"date-time":"2003-09-24T00:00:00Z","timestamp":1064361600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2003,12]]},"DOI":"10.1038\/sj.ejhg.5201069","type":"journal-article","created":{"date-parts":[[2003,9,24]],"date-time":"2003-09-24T18:01:34Z","timestamp":1064426494000},"page":"931-936","source":"Crossref","is-referenced-by-count":14,"title":["Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7\u2009kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination"],"prefix":"10.1038","volume":"11","author":[{"given":"Ching-Shiang","family":"Chi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi-Ren","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang-Hui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiu-Fen","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betty","family":"Suk-Chun Mak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Hsuang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsai-Yuh","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"San-Ging","family":"Shu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao-Hui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2003,9,24]]},"reference":[{"key":"BF5201069_CR1","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1542\/peds.14.5.462","volume":"14","author":"JH Menkes","year":"1954","unstructured":"Menkes JH, Hurst PL, Craig JM : A new syndrome progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 1954; 14: 462\u2013466.","journal-title":"Pediatrics"},{"key":"BF5201069_CR2","first-page":"1971","volume-title":"The metabolic and molecular bases of inherited disease","author":"DT Chuang","year":"2001","unstructured":"Chuang DT, Shih VE : Disorders of branched chain amino acid and keto acid metabolism; in: Scriver CR, Beaudet A, Sly WL, Valle D (eds): The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001, pp 1971\u20132006."},{"key":"BF5201069_CR3","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1086\/316950","volume":"68","author":"MM Nellis","year":"2001","unstructured":"Nellis MM, Danner DJ : Gene preference in maple syrup urine disease. Am J Hum Genet 2001; 68: 232\u2013237.","journal-title":"Am J Hum Genet"},{"issue":"Suppl","key":"BF5201069_CR4","first-page":"139A","volume":"33","author":"L Marshall","year":"1981","unstructured":"Marshall L, DiGeorge A : Maple syrup urine disease in the Old Order Mennonites. Am J Hum Genet 1981; 33 (Suppl): 139A.","journal-title":"Am J Hum Genet"},{"key":"BF5201069_CR5","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1086\/323677","volume":"69","author":"L Edelmann","year":"2001","unstructured":"Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA : Maple syrup urine disease identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet 2001; 69: 863\u2013868.","journal-title":"Am J Hum Genet"},{"key":"BF5201069_CR6","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1172\/JCI119586","volume":"100","author":"JL Chuang","year":"1997","unstructured":"Chuang JL, Cox RP, Chuang DT : E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype. J Clin Invest 1997; 100: 736\u2013744.","journal-title":"J Clin Invest"},{"key":"BF5201069_CR7","first-page":"414","volume":"52","author":"CW Fisher","year":"1993","unstructured":"Fisher CW, Fisher CR, Chuang JL, Lau KS, Chuang DT, Cox RP : Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations. Am J Hum Genet 1993; 52: 414\u2013424.","journal-title":"Am J Hum Genet"},{"key":"BF5201069_CR8","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1002\/(SICI)1097-0215(20000515)86:4<506::AID-IJC10>3.0.CO;2-8","volume":"86","author":"T Harada","year":"2000","unstructured":"Harada T, Nagayama J, Kohno K, Mickley LA, Fojo T, Kuwano M et al: Alu-associated interstitial deletions and chromosomal re-arrangement in 2 human multidrug-resistant cell lines. Int J Cancer 2000; 86: 506\u2013511.","journal-title":"Int J Cancer"},{"key":"BF5201069_CR9","doi-asserted-by":"publisher","first-page":"3097","DOI":"10.1093\/nar\/12.7.3097","volume":"12","author":"MD Been","year":"1984","unstructured":"Been MD, Burgess RR, Champoux JJ : Nucleotide sequence preference at rat liver and wheat germ type 1 DNA topoisomerase breakage sites in duplex SV40 DNA. Nucleic Acids Res 1984; 12: 3097\u20133114.","journal-title":"Nucleic Acids Res"},{"key":"BF5201069_CR10","doi-asserted-by":"publisher","first-page":"5497","DOI":"10.1073\/pnas.86.14.5497","volume":"86","author":"AO Sperry","year":"1989","unstructured":"Sperry AO, Blasquez VC, Garrard WT : Dysfunction of chromosomal loop attachment sites: illegitimate recombination linked to matrix association regions and topoisomerase II. Proc Natl Acad Sci USA 1989; 86: 5497\u20135501.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201069_CR11","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1093\/nar\/23.2.256","volume":"23","author":"NS Rudiger","year":"1995","unstructured":"Rudiger NS, Gregersen N, Kielland-Brandt MC : One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 1995; 23: 256\u2013260.","journal-title":"Nucleic Acids Res"},{"key":"BF5201069_CR12","first-page":"49","volume":"8","author":"DT Chuang","year":"1991","unstructured":"Chuang DT, Fisher CW, Lau KS, Griffin TA, Wynn RM, Cox RP : Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex. Mol Biol Med 1991; 8: 49\u201363.","journal-title":"Mol Biol Med"},{"key":"BF5201069_CR13","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1086\/303042","volume":"67","author":"RV Lebo","year":"2000","unstructured":"Lebo RV, Shapiro LR, Fenerci EY et al: Rare etiology of autosomal recessive disease in a child with noncarrier parents. Am J Hum Gene 2000; 67: 750\u2013754.","journal-title":"Am J Hum Gene"},{"key":"BF5201069_CR14","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/s100380050047","volume":"43","author":"M Tsuruta","year":"1998","unstructured":"Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A et al: Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. J Hum Genet 1998; 43: 91\u2013100.","journal-title":"J Hum Genet"},{"key":"BF5201069_CR15","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1016\/0925-4439(92)90043-M","volume":"1138","author":"WJ Herring","year":"1992","unstructured":"Herring WJ, McKean M, Dracopoli N, Danner DJ : Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease. Biochim Biophys Acta 1992; 1138: 236\u2013242.","journal-title":"Biochim Biophys Acta"},{"key":"BF5201069_CR16","doi-asserted-by":"publisher","first-page":"2070","DOI":"10.1128\/MCB.21.6.2070-2084.2001","volume":"21","author":"LA Balmer","year":"2001","unstructured":"Balmer LA, Beveridge DJ, Jazayeri JA, Thomson AM, Walker CE, Leedman PJ : Identification of a novel AU-rich element in the 3\u2032 untranslated region of epidermal growth factor receptor mRNA that is the target for regulated RNA-binding proteins. Mol Cell Biol 2001; 21: 2070\u20132084.","journal-title":"Mol Cell Biol"},{"issue":"S35","key":"BF5201069_CR17","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1002\/1097-4644(2000)79:35+<3::AID-JCB1121>3.0.CO;2-9","volume":"79","author":"J. Bode","year":"2000","unstructured":"Bode J, Benham C, Ernst E, Knopp A, Marschalek R, Strick R et al: Fatal connections: when DNA ends meet on the nuclear matrix. J Cell Biochem 2000; (Suppl 35): 3\u201322.","journal-title":"Journal of Cellular Biochemistry"},{"key":"BF5201069_CR18","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1146\/annurev.genet.35.102401.091032","volume":"35","author":"EM Ostertag","year":"2001","unstructured":"Ostertag EM, Kazazian Jr HH : Biology of mammalian L1 retrotransposons. Annu Rev Genet 2001; 35: 501\u2013538.","journal-title":"Annu Rev Genet"},{"key":"BF5201069_CR19","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1055\/s-0037-1615098","volume":"79","author":"N Van de Water","year":"1998","unstructured":"Van de Water N, Williams R, Ockelford P, Browett P : A 20.7\u2009kb deletion within the factor VIII gene associated with LINE-1 element insertion. Thromb Haemost 1998; 79: 938\u2013942.","journal-title":"Thromb Haemost"},{"key":"BF5201069_CR20","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1007\/s100380070003","volume":"45","author":"R Suminaga","year":"2000","unstructured":"Suminaga R, Takeshima Y, Yasuda K, Shiga N, Nakamura H, Matsuo M : Nonhomologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability. J Hum Genet 2000; 45: 331\u2013336.","journal-title":"J Hum Genet"},{"key":"BF5201069_CR21","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1006\/jmbi.1998.1641","volume":"277","author":"B Burwinkel","year":"1998","unstructured":"Burwinkel B, Kilimann MW : Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. J Mol Biol 1998; 277: 513\u2013517.","journal-title":"J Mol Biol"},{"key":"BF5201069_CR22","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/S0378-1119(98)00466-1","volume":"222","author":"JC McNaughton","year":"1998","unstructured":"McNaughton JC, Cockburn DJ, Hughes G, Jones WA, Laing NG, Ray PN et al: Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene. Gene 1998; 222: 41\u201351.","journal-title":"Gene"},{"key":"BF5201069_CR23","doi-asserted-by":"publisher","first-page":"8527","DOI":"10.1073\/pnas.91.18.8527","volume":"91","author":"K Sakagami","year":"1994","unstructured":"Sakagami K, Tokinaga Y, Yoshikura H, Kobayashi I : Homology-associated nonhomologous recombination in mammalian gene targeting. Proc Natl Acad Sci USA 1994; 91: 8527\u20138531.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201069_CR24","first-page":"119","volume":"99","author":"KP Feng","year":"1986","unstructured":"Feng KP, Chow KW, Chan YP : Maple syrup urine disease in Chinese. Chin Med J 1986; 99: 119\u2013120.","journal-title":"Chin Med J"},{"key":"BF5201069_CR25","first-page":"281","volume":"43","author":"MC Lin","year":"2002","unstructured":"Lin MC, Chen CH, Fu LS, Jan SL, Shu SG, Chi CS : Management of acute decompensation of neonatal maple syrup urine disease with continuous arteriovenous haemofiltration: report of one case. Acta Paediatr Taiwanica 2002; 43: 281\u2013284.","journal-title":"Acta Paediatr Taiwanica"},{"key":"BF5201069_CR26","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1034\/j.1399-0039.2000.550101.x","volume":"55","author":"M Lin","year":"2000","unstructured":"Lin M, Chu CC, Lee HL, Chang SL, Ohashi J, Tokunaga K et al: Heterogeneity of Taiwan's indigenous population: possible relation to prehistoric Mongoloid dispersals. Tissue Antigens 2000; 55: 1\u20139.","journal-title":"Tissue Antigens"},{"key":"BF5201069_CR27","doi-asserted-by":"publisher","first-page":"1807","DOI":"10.1086\/302131","volume":"63","author":"T Melton","year":"1998","unstructured":"Melton T, Clifford S, Martinson J, Batzer M, Stoneking M : Genetic evidence for the proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes. Am J Hum Genet 1998; 63: 1807\u20131823.","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201069.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201069","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201069.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:30:12Z","timestamp":1684373412000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201069"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,9,24]]},"references-count":27,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2003,12]]}},"alternative-id":["BF5201069"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201069","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,9,24]]}}}