Homocystinuria: Heterozygote Detection using Phytohemagglutinin-Stimulated Lymphocytes

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Homocystinuria: Heterozygote Detection

cytes as a readily available source of this enzyme, its activity has been compared in 48 control subjects, seven homozygotes affected with homocystinuria, and 17 obligate heterozygotes. PHA-induced enzyme levels were highest in controls (mean ±SEM, 666.9±170.2 pmol cystathionine formed/mg protein per 4 h), intermediate in heterozygotes (114.4±27.3), and absent to severely deficient in homozygot...

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ژورنال

عنوان ژورنال: Journal of Clinical Investigation

سال: 1973

ISSN: 0021-9738

DOI: 10.1172/jci107170