| hypoxanthine-guanine phosphoribosyltransferase (hprt) deficiency: identification of point mutations in japanese patients with lesch-nyhan syndrome and hereditary gout and their permanent expression in an hprt-deficient mouse cell line. | two different single nucleotide transitions of hypoxanthine-guanine phosphoribosyltransferase (hprt) were identified in a japanese patient with lesch-nyhan syndrome (lns) and a patient with hereditary gout. hprt enzyme activities in the two patients were severely deficient, but the size and amount of mrna were normal according to northern analysis. entire coding regions of hprt cdnas were amplified by pcr and sequenced. a g-to-a substitution at base 208 in exon 3, which predicted glycine 70 to a ... | 1994 | 8112742 |