共 50 条
- [22] ADENINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY IN ASSOCIATION WITH SUB-NORMAL HYPOXANTHINE PHOSPHORIBOSYL TRANSFERASE IN FAMILIES OF LESCH-NYHAN PATIENTS BIOCHEMICAL MEDICINE, 1978, 19 (02): : 252 - 259
- [23] LESCH-NYHAN SYNDROME DUE TO A SINGLE NUCLEOTIDE CHANGE IN THE HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE GENE (HPRTYALE) PURINE AND PYRIMIDINE METABOLISM IN MAN VI, PT A: CLINICAL AND MOLECULAR BIOLOGY, 1989, 253 : 135 - 138
- [29] IDENTIFICATION OF A SINGLE NUCLEOTIDE CHANGE IN THE HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE GENE (HPRTYALE) RESPONSIBLE FOR LESCH-NYHAN SYNDROME JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (01): : 11 - 13