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

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 mutation causes an amino acid change from aspartic aci...

Popoln opis

Bibliografske podrobnosti

izdano v:	J Clin Invest
Principais autores:	Kluijtmans, L A, Boers, G H, Stevens, E M, Renier, W O, Kraus, J P, Trijbels, F J, van den Heuvel, L P, Blom, H J
Format:	Artigo
Jezik:	Inglês
Izdano:	American Society for Clinical Investigation 1996
Teme:	Research Article
Online dostop:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC507429/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8755636/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118791
Oznake:	Označite Brez oznak, prvi označite!