HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE - CHARACTERIZATION OF A MUTANT IN A PATIENT WITH GOUT

被引:38
作者
FOX, IH [1 ]
DWOSH, IL [1 ]
MARCHANT, PJ [1 ]
LACROIX, S [1 ]
MOORE, MR [1 ]
OMURA, S [1 ]
WYHOFSKY, V [1 ]
机构
[1] UNIV TORONTO, WELLESLEY HOSP, RHEUMATIC DIS UNIT, PURINE RES LAB, TORONTO, ONTARIO, CANADA
关键词
D O I
10.1172/JCI108200
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 [基础医学];
摘要
引用
收藏
页码:1239 / 1249
页数:11
相关论文
共 62 条
[1]
DIPLOID AZAGUANINE-RESISTANT MUTANTS OF CULTURED HUMAN FIBROBLASTS [J].
ALBERTINI, RJ ;
DEMARS, E .
SCIENCE, 1970, 169 (3944) :482-+
[2]
ARNOLD WJ, 1971, J BIOL CHEM, V246, P7398
[3]
HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE - CHARACTERISTICS OF MUTANT ENZYME IN ERYTHROCYTES FROM PATIENTS WITH LESCH-NYHAN SYNDROME [J].
ARNOLD, WJ ;
MEADE, JC ;
KELLEY, WN .
JOURNAL OF CLINICAL INVESTIGATION, 1972, 51 (07) :1805-&
[4]
ISOENZYMES OF "HYPOXANTHINE-GUANINE-PHOSPHORIBOSYL TRANSFERASE IN A FAMILY WITH PARTIAL DEFICIENCY OF ENZYME [J].
BAKAY, B ;
FAWCETT, N ;
NYHAN, WL ;
KOGUT, MD .
BIOCHEMICAL GENETICS, 1972, 7 (01) :73-&
[5]
BEARDMORE TD, 1973, J LAB CLIN MED, V81, P43
[6]
MUTATIONS AFFECTING STRUCTURE OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE IN CULTURED CHINESE-HAMSTER CELLS [J].
BEAUDET, AL ;
ROUFA, DJ ;
CASKEY, CT .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1973, 70 (02) :320-324
[7]
HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE VARIANT ASSOCIATED WITH ACCELERATED PURINE SYNTHESIS [J].
BENKE, PJ ;
HERRICK, N ;
HEBERT, A .
JOURNAL OF CLINICAL INVESTIGATION, 1973, 52 (09) :2234-2240
[8]
THE RENAL CLEARANCE OF ENDOGENOUS CREATININE IN MAN [J].
BROD, J ;
SIROTA, JH .
JOURNAL OF CLINICAL INVESTIGATION, 1948, 27 (05) :645-654
[9]
SELECTIVE DEGRADATION OF ABNORMAL PROTEINS IN MAMMALIAN TISSUE-CULTURE CELLS [J].
CAPECCHI, MR ;
CAPECCHI, NE ;
HUGHES, SH ;
WAHL, GM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1974, 71 (12) :4732-4736
[10]
DISPARATE ENZYME-ACTIVITY IN ERYTHROCYTES AND LEUKOCYTES - VARIANT OF HYPOXANTHINE PHOSPHORIBOSYL-TRANSFERASE DEFICIENCY WITH AN UNSTABLE ENZYME [J].
DANCIS, J ;
YIP, LC ;
COX, RP ;
PIOMELLI, S ;
BALIS, ME .
JOURNAL OF CLINICAL INVESTIGATION, 1973, 52 (08) :2068-2074