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• W1531104378 abstract "Clinical GeneticsVolume 60, Issue 2 p. 161-163 Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients: three novel mutations R Castro, R CastroSearch for more papers by this authorSG Heil, SG HeilSearch for more papers by this authorI Rivera, I RiveraSearch for more papers by this authorC Jakobs, C JakobsSearch for more papers by this authorIT De Almeida, IT De AlmeidaSearch for more papers by this authorHJ Blom, HJ BlomSearch for more papers by this author R Castro, R CastroSearch for more papers by this authorSG Heil, SG HeilSearch for more papers by this authorI Rivera, I RiveraSearch for more papers by this authorC Jakobs, C JakobsSearch for more papers by this authorIT De Almeida, IT De AlmeidaSearch for more papers by this authorHJ Blom, HJ BlomSearch for more papers by this author First published: 07 July 2008 https://doi.org/10.1034/j.1399-0004.2001.600212.xCitations: 3 Isabel Tavares de AlmeidaCentro de Patogénese MolecularFaculdade de Farmácia da Universidade de LisboaAv. Prof. Gama Pinto1649-039 LisboaPortugalTel: +351 217946491E-mail: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Mudd HS, Levy HL, Skovby F. Disorders of transsulfuration. In: CR Scriver, AL Beaudet, WS Sly, D Vall, eds. The Metabolic and Molecular Basis of Inherited Disease, 7th edn. New York: McGraw-Hill, 1995: 1279–1327. 2 Kraus JP, Janosik M, Kozicht V. Cystathionine β-synthase mutations in homocystinuria. Hum Mutat 1999: 13: 362–375.DOI: 10.1002/(sici)1098-1004(1999)13:5<362::aid-humu4>3.3.co;2-b 3 Engbersen AMT, Franken DG, Boers GHJ, Stevens EMB, Trijbels JMF, Blom HJ. Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 1995: 56: 142–150. 4 Boers GHJ, Fowler B, Smals AGH. Improved identification of heterozygotes for homocystinuria due to cystathionine β-synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts. Hum Genet 1985: 69: 164–169. 5 Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988: 16: 1215. 6 Leadon SA & Cerutti PA. A rapid and mild procedure for the isolation of DNA from mammalian cells. Anal Biochem 1982: 120: 282–288. 7 Gaustadnes M, Kluijtmans LAJ, Jensen OK. Detection of a novel deletion in the cystathionine β-synthase (CBS) gene using an improved genomic DNA based method. FEBS Lett 1998: 431: 175–179. 8 Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ. High prevalence of a mutation in the cystathionine β-synthase gene. Am J Hum Genet 1996: 59: 1262–1267. 9 Kluijtmans LAJ, Boers GHJ, Trijbels JMF, Van Lith-Zanders HMA, Van den Heuvel LPWJ, Blom HJ. A common 844ins68 insertion variant in the cystathionine β-synthase gene. Biochem Mol Med 1997: 62: 23–25.DOI: 10.1006/bmme.1997.2623 Citing Literature Volume60, Issue2August 2001Pages 161-163 ReferencesRelatedInformation" @default.
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• W1531104378 title "Molecular genetic analysis of the cystathionine β<b>-</b> synthase gene in Portuguese homocystinuria patients: three novel mutations" @default.
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