Molecular variation in relation to purine metabolism

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Molecular variation in relation to purine metabolism.

The disorders of purine metabolism illustrate the causation of human disease by molecular variants in the sense of different abnormal enzymes producing the same clinico-pathological manifestations and of different inherited anomalies of the same enzyme protein resulting in the same clinical manifestations. Except for the clinical recognition of tophaceous gout and uric acid urinary stones, an a...

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ژورنال

عنوان ژورنال: Journal of Clinical Pathology

سال: 1974

ISSN: 0021-9746

DOI: 10.1136/jcp.s3-8.1.48