X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency without neurological disorders. a report of a family.
Clinical genetics（2008）
Abstract
A patient is reported with X-linked hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. He had gout but no neurological symptoms. The patient had negligible HGPRT activity as determined by thin layer chromatography and liquid scintillation counting. Autoradiography of fibroblast cultures revealed no uptake of -3H-hypoxanthine. His mother and two sisters were shown to be heterozygotes.
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Key words
neurological disorders,x-linked,hypoxanthine-guanine
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