{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:27:45Z","timestamp":1790630865527,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[1996,1,25]],"date-time":"1996-01-25T00:00:00Z","timestamp":822528000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1996,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterized by thymine\u2010uraciluria and associated with a variable clinical phenotype. In order to identify the molecular defect underlying complete DPD deficiency in a Dutch patient previously shown to have a 165 base pair deletion in the mature DPD mRNA, we cloned the genomic region encompassing the skipped exon and its flanking intron sequences. Sequence analysis revealed that the patient was homozygous for a single G\u2192A point mutation in the invariant GT dinucleotide splice donor site downstream of the skipped exon. The same mutation was identified in another, unrelated, Dutch patient. Because this mutation destroys a unique<jats:italic>Mae<\/jats:italic>II restriction site, rapid screening using restriction enzyme cleavage of the amplified genomic region encompassing this mutation is possible. Analysis of 50 controls revealed no individuals heterozygous for this mutation<\/jats:p>","DOI":"10.1007\/bf01799841","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:38:06Z","timestamp":1119371886000},"page":"645-654","source":"Crossref","is-referenced-by-count":89,"title":["A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency"],"prefix":"10.1002","volume":"19","author":[{"given":"P.","family":"Vreken","sequence":"first","affiliation":[{"name":"Academic Medical Center University of Amsterdam, Department of Clinical Chemistry F0\u2010224  PO Box 22700 Amsterdam 1100 DE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. B. P.","family":"Van Kuilenburg","sequence":"additional","affiliation":[{"name":"Academic Medical Center University of Amsterdam, Department of Clinical Chemistry F0\u2010224  PO Box 22700 Amsterdam 1100 DE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Meinsma","sequence":"additional","affiliation":[{"name":"Academic Medical Center University of Amsterdam, Department of Clinical Chemistry F0\u2010224  PO Box 22700 Amsterdam 1100 DE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. P. A.","family":"Smit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Academic Hospital Groningen  Groningen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. 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H.","family":"van Gennip","sequence":"additional","affiliation":[{"name":"Academic Medical Center University of Amsterdam, Department of Clinical Chemistry F0\u2010224  PO Box 22700 Amsterdam 1100 DE The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1996,1,25]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711611"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90206-7"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90014-7"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(87)90079-7"},{"key":"e_1_2_1_6_1","first-page":"1105","article-title":"Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency","volume":"48","author":"Carstens RP","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(87)90021-2"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113308"},{"key":"e_1_2_1_9_1","first-page":"2899","article-title":"Correlation between dihydropyrimidine dehydrogenase activity in peripheral mononuclear cells and systemic clearance of fluorouracil in cancer patients","volume":"52","author":"Fleming RA","year":"1992","journal-title":"Cancer Res"},{"key":"e_1_2_1_10_1","first-page":"499","article-title":"Severe fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. 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