IDENTIFICATION OF A SINGLE NUCLEOTIDE CHANGE IN THE HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE GENE (HPRTYALE) RESPONSIBLE FOR LESCH-NYHAN SYNDROME

被引：31

作者：

FUJIMORI, S

DAVIDSON, BL

KELLEY, WN

PALELLA, TD

机构：

[1] UNIV MICHIGAN,SCH MED,DEPT INTERNAL MED,1150 W MED CTR,5520 MED SCI RES BLDG 1,ANN ARBOR,MI 48109

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

[3] UNIV MICHIGAN,SCH MED,RACKHAM ARTHRIT RES UNIT,ANN ARBOR,MI 48109

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1989年 / 83卷 / 01期

关键词：

D O I：

10.1172/JCI113846

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：11 / 13

页数：3

共 17 条

[1] PURIFICATION OF BIOLOGICALLY-ACTIVE GLOBIN MESSENGER-RNA BY CHROMATOGRAPHY ON OLIGOTHYMIDYLIC-ACID-CELLULOSE
AVIV, H
LEDER, P
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (06) : 1408 - &
[2] SCREENING GAMMAGT RECOMBINANT CLONES BY HYBRIDIZATION TO SINGLE PLAQUES INSITU
BENTON, WD
DAVIS, RW
[J]. SCIENCE, 1977, 196 (4286) : 180 - 182
[3] BUFFER GRADIENT GELS AND S-35 LABEL AS AN AID TO RAPID DNA-SEQUENCE DETERMINATION
BIGGIN, MD
GIBSON, TJ
HONG, GF
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (13): : 3963 - 3965
[4] BRENNAND J, 1983, J BIOL CHEM, V258, P9593
[5] DISEASE DIAGNOSIS BY RECOMBINANT-DNA METHODS
CASKEY, CT
[J]. SCIENCE, 1987, 236 (4806) : 1223 - 1229
[6] CHOU DY, 1978, ANNU REV BIOCHEM, V47, P251
[7] IDENTIFICATION OF A SINGLE NUCLEOTIDE CHANGE IN A MUTANT-GENE FOR HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (HPRT ANN-ARBOR)
FUJIMORI, S
HIDAKA, Y
DAVIDSON, BL
PALELLA, TD
KELLEY, WN
[J]. HUMAN GENETICS, 1988, 79 (01) : 39 - 43
[8] IDENTIFICATION AND LOCALIZATION OF MUTATIONS AT THE LESCH-NYHAN LOCUS BY RIBONUCLEASE-A CLEAVAGE
GIBBS, RA
CASKEY, CT
[J]. SCIENCE, 1987, 236 (4799) : 303 - 305
[9] 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 - +
[10] MANIATIS T, 1982, MOL CLONING LABORATO, P196

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