Plasma homocysteine as a risk factor for vascular disease

Autor: Graham, IM, Daly, LE, Refsum, HM, Robinson, K, Brattstrom, LE, Ueland, PM, Palma-Reis, RJ, Boers, GH, Witteman, JCM, Rubb, P

Publikováno v: JAMA-Journal of the American Medical Association, 277, 1775-1781. American Medical Association

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::e8b8fe26e750710595910ef0944828c4
https://pure.eur.nl/en/publications/7839335e-3fdd-4841-8efe-576b35545b48

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Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Autor: Michael Krawczak, Mette Gaustadnes, Gianfranco Sebastio, Viktor Kozich, Hans G. Koch, Jitka Sokolová, Michael Linnebank, David Neil Cooper, Bridget Wilcken, Toshihiro Ohura, Ewa Pronicka, Generoso Andria, Guglielmina Pepe, Olga Rickards, Sufin Yap, Leo A. J. Kluijtmans, David E.L. Wilcken, E. R. Naughten, Petr Vyletal, Henk J. Blom, Godfried H.J. Boers, Jan P. Kraus, Flemming Skovby, Aranka László

Publikováno v: Vyletal, P, Sokolová, J, Cooper, DN, Kraus, JP, Krawczak, M, Pepe, G, Rickards, O, Koch, HG, Kluijtmans, LAJ, Blom, HJ, Boers, GHJ, Gaustadnes, M, Skovby, F, Wilcken, B, Wilcken, DEL, Andria, G, Sebastio, G, Naughten, ER, Yap, S, Ohura, T, Pronicka, E, Laszlo, A & Kožich, V 2007, ' Diversity of cystathionine ß-synthase haplotypes bearing the most common homocystinuria mutation c.833T >C: a possible role for gene conversion. ', Human Mutation, vol. 28, no. 3, pp. 255-264 . https://doi.org/10.1002/humu.20430
Human Mutation, 28, 3, pp. 255-64
Human Mutation
Human Mutation, 28, 255-64

Contains fulltext : 52383.pdf (Publisher’s version ) (Closed access) Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278 T) in the cystathionine beta-synthase (CBS) gene represents the most common cause of pyridoxine-respons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b3dba13c26512ce843024099efb3be2
https://doi.org/10.1002/humu.20430

Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.

Autor: Jakubowski H; Department of Microbiology & Molecular Genetics, UMDNJ-New Jersey Medical School, International Center for Public Health, 225 Warren St., Newark, NJ 07101-1709, USA. jakubows@umdnj.edu, Boers GH, Strauss KA

Publikováno v: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2008 Dec; Vol. 22 (12), pp. 4071-6. Date of Electronic Publication: 2008 Aug 15.