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Homocystinuria: Heterozygote Detection using Phytohemagglutinin-Stimulated Lymphocytes

Deficiency of cystathionine synthase activity results in the clinical syndrome of homocystinuria. Using phytohemagglutinin (PHA)-stimulated lymphocytes as a readily available source of this enzyme, its activity has been compared in 48 control subjects, seven homozygotes affected with homocystinuria,...

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Pubblicato in:J Clin Invest
Autori principali: Goldstein, Joseph L., Campbell, Barbara K., Gartler, Stanley M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 1973
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC302247/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4682386/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI107170
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