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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC507429/
https://ncbi.nlm.nih.gov/pubmed/8755636
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