MOLECULAR-BASIS OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN A PATIENT WITH THE LESCH-NYHAN SYNDROME

被引：43

作者：

WILSON, JM

KELLEY, WN

机构：

[1] UNIV MICHIGAN,SCH MED,DEPT INTERNAL MED,ANN ARBOR,MI 48109

[2] UNIV MICHIGAN,SCH MED,DEPT BIOL CHEM,ANN ARBOR,MI 48109

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1983年 / 71卷 / 05期

关键词：

D O I：

10.1172/JCI110884

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

引用

页码：1331 / 1335

页数：5

共 15 条

[1] CLONED CDNA SEQUENCES OF THE HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE GENE FROM A MOUSE NEURO-BLASTOMA CELL-LINE FOUND TO HAVE AMPLIFIED GENOMIC SEQUENCES
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[2] HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE - 2-DIMENSIONAL GELS FROM NORMAL AND LESCH-NYHAN HEMOLYZATES
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MILMAN, G
[J]. SCIENCE, 1977, 196 (4294) : 1119 - 1120
[3] RADIOIMMUNE DETERMINATION OF HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE CROSSREACTING MATERIAL IN ERYTHROCYTES OF LESCH-NYHAN PATIENTS
GHANGAS, GS
MILMAN, G
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (10) : 4147 - 4150
[4] HOLDEN JA, 1978, J BIOL CHEM, V253, P4459
[5] ISOLATION AND CHARACTERIZATION OF A FULL-LENGTH EXPRESSIBLE CDNA FOR HUMAN HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE
JOLLY, DJ
OKAYAMA, H
BERG, P
ESTY, AC
FILPULA, D
BOHLEN, P
JOHNSON, GG
SHIVELY, JE
HUNKAPILLAR, T
FRIEDMANN, T
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (02): : 477 - 481
[6] A SPECIFIC ENZYME DEFECT IN GOUT ASSOCIATED WITH OVERPRODUCTION OF URIC ACID
KELLEY, WN
ROSENBLO.FM
HENDERSO.JF
SEEGMILL.JE
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1967, 57 (06) : 1735 - +
[7] LESCH-NYHAN SYNDROME - ALTERED KINETIC PROPERTIES OF MUTANT ENZYME
MCDONALD, JA
KELLEY, WN
[J]. SCIENCE, 1971, 171 (3972) : 689 - &
[8] PARTIAL HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY WITH FULL EXPRESSION OF THE LESCH-NYHAN SYNDROME
RIJKSEN, G
STAAL, GEJ
VANDERVLIST, MJM
BEEMER, FA
TROOST, J
GUTENSOHN, W
VANLAARHOVEN, JPRM
DEBRUYN, CHMM
[J]. HUMAN GENETICS, 1981, 57 (01) : 39 - 47
[9] ENZYME DEFECT ASSOCIATED WITH A SEX-LINKED HUMAN NEUROLOGICAL DISORDER AND EXCESSIVE PURINE SYNTHESIS
SEEGMILLER, JE
ROSENBLOOM, FM
KELLEY, WN
[J]. SCIENCE, 1967, 155 (3770) : 1682 - +
[10] SEEGMILLER JE, 1980, METABOLIC CONTROL DI, P778

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