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Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.

An inherited, structurally abnormal and superactive form of the enzyme 5-phosphoribosyl 1-pyrophosphate (PP-ribose-P) synthetase (EC 2.7.6.1) has been characterized in fibroblasts cultured from a 14-yr-old male (S.M.) with clinical manifestations of uric acid overproduction present since infancy. PP...

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Autors principals: Becker, M A, Raivio, K O, Bakay, B, Adams, W B, Nyhan, W L
Format: Artigo
Idioma:Inglês
Publicat: 1980
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC371345/
https://ncbi.nlm.nih.gov/pubmed/6243137
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