ADENINE PHOSPHORIBOSYLTRANSFERASE - SIMPLE SPECTROPHOTOMETRIC ASSAY AND INCIDENCE OF MUTATION IN NORMAL POPULATION

被引:47
作者
JOHNSON, LA [1 ]
GORDON, RB [1 ]
EMMERSON, BT [1 ]
机构
[1] UNIV QUEENSLAND, PRINCESS ALEXANDRA HOSP, DEPT MED, BRISBANE 4000, Qld, AUSTRALIA
关键词
D O I
10.1007/BF00484458
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:265 / 272
页数:8
相关论文
共 11 条
[1]   ASSAY OF HYPOXANTHINE-GUANINE AND ADENINE PHOSPHORIBOSYL TRANSFERASES . A SIMPLE SCREENING TEST FOR LESCH-NYHAN SYNDROME AND RELATED DISORDERS OF PURINE METABOLISM [J].
BAKAY, B ;
TELFER, MA ;
NYHAN, WL .
BIOCHEMICAL MEDICINE, 1969, 3 (03) :230-&
[2]  
CARTIER P, 1974, CR ACAD SCI D NAT, V279, P883
[3]  
DELBARRE F, 1974, ADV EXPTL MEDICINE A, V41, P333
[4]   PURINE METABOLISM IN HETEROXYGOUS CARRIERS OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY [J].
EMMERSON, BT ;
WYNGAARD.JB .
SCIENCE, 1969, 166 (3912) :1533-&
[5]   ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY - INHERITANCE AND OCCURRENCE IN A FEMALE WITH GOUT AND RENAL-DISEASE [J].
EMMERSON, BT ;
GORDON, RB ;
THOMPSON, L .
AUSTRALIAN AND NEW ZEALAND JOURNAL OF MEDICINE, 1975, 5 (05) :440-446
[6]   ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN MAN - REPORT OF A SECOND FAMILY [J].
FOX, IH ;
MEADE, JC ;
KELLEY, WN .
AMERICAN JOURNAL OF MEDICINE, 1973, 55 (05) :614-620
[7]   ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY - A PREVIOUSLY UNDESCRIBED GENETIC DEFECT IN MAN [J].
KELLEY, WN ;
LEVY, RI ;
ROSENBLOOM, FM ;
HENDERSON, JF ;
SEEGMILLER, JE .
JOURNAL OF CLINICAL INVESTIGATION, 1968, 47 (10) :2281-+
[8]   A SPECIFIC ENZYME DEFECT IN GOUT ASSOCIATED WITH OVERPRODUCTION OF URIC ACID [J].
KELLEY, WN ;
ROSENBLO.FM ;
HENDERSO.JF ;
SEEGMILL.JE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1967, 57 (06) :1735-+
[9]  
LOWRY OH, 1951, J BIOL CHEM, V193, P265
[10]   SPECTROPHOTOMETRIC ASSAY FOR HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE [J].
NEWCOMBE, DS .
ANALYTICAL BIOCHEMISTRY, 1971, 43 (02) :454-&