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...

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Vydáno v:J Clin Invest
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 1996
Témata:
Research Article
On-line přístup: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
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