Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient

Autor: L.P.W.J. van den Heuvel, F.J.F. Trijbels, Henk J. Blom, Godfried H.J. Boers, W.O. Renier, Jan P. Kraus, Leo A. J. Kluijtmans, Erik M. B. Stevens

Publikováno v: Journal of Clinical Investigation, 98, 285-289
Journal of Clinical Investigation, 98, 2, pp. 285-289
Journal of Clinical Investigation, 98, pp. 285-289

We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in a partially pyridoxine-responsive homocystinuria patient. Direct sequencing of the entire CBS cDNA revealed the presence of a homozygous G1330A transition. This muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b080d4257f9fdc4900760362e3d0233
http://hdl.handle.net/2066/23662