共 50 条
- [45] 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
- [47] A NEW MUTATION AT EXON 2 OF HPRT1 LOCUS CAUSING LESCH-NYHAN SYNDROME REVISTA INNOVACIENCIA, 2015, 3 (01): : 18 - 21
- [49] MOLECULAR CHARACTERIZATION OF A DELETION IN THE HPRT1 GENE IN A PATIENT WITH LESCH-NYHAN SYNDROME NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2011, 30 (12): : 1266 - 1271
- [50] Gene therapy for inherited neurological disorders: Towards therapeutic intervention in the Lesch-Nyhan syndrome NEURONAL DEGENERATION AND REGENERATION: FROM BASIC MECHANISMS TO PROSPECTS FOR THERAPY, 1998, 117 : 485 - 501