Disparate Enzyme Activity in Erythrocytes and Leukocytes. A VARIANT OF HYPOXANTHINE PHOSPHORIBOSYL-TRANSFERASE DEFICIENCY WITH AN UNSTABLE ENZYME

A family is reported in which each of two sisters has a son with no detectable hypoxanthine phosphoribosyltransferase (HPRT) (EC 2. 4. 2. 8) in his erythrocytes, a finding considered pathognomonic of Lesch-Nyhan disease. However, neither has the stigmata of the disease. One boy is neurologically nor...

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Bibliographic Details
Main Authors: Dancis, Joseph, Yip, Lily C., Cox, Rody P., Piomelli, Sergio, Balis, M. Earl
Format: Artigo
Language:Inglês
Published: 1973
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC302489/
https://ncbi.nlm.nih.gov/pubmed/4352580
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