共 50 条
- [42] LESCH-NYHAN SYNDROME - NEW VARIANT WITH HIGHER HPRT ACTIVITY THAN IN THE CLASSICAL DISEASE AND DETECTION OF THE HETEROZYGOUS TRAIT IN THE PATIENTS RED BLOOD-CELLS MEDICINA CLINICA, 1985, 84 (02): : 68 - 71
- [43] Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome ACTA PAEDIATRICA JAPONICA, 1996, 38 (01): : 36 - 40
- [48] Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes GENETIC TESTING, 2004, 8 (01): : 51 - 64