IDENTIFICATION OF MUTATIONS LEADING TO THE LESCH-NYHAN SYNDROME BY AUTOMATED DIRECT DNA SEQUENCING OF INVITRO AMPLIFIED CDNA

被引：312

作者：

GIBBS, RA

NGUYEN, PN

MCBRIDE, LJ

KOEPF, SM

CASKEY, CT

机构：

[1] HOWARD HUGHES MED INST,HOUSTON,TX 77030

[2] APPL BIOSYST,FOSTER CITY,CA 94404

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1989年 / 86卷 / 06期

关键词：

D O I：

10.1073/pnas.86.6.1919

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：1919 / 1923

页数：5

共 27 条

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[3] CONNELL C, 1987, BIOTECHNIQUES, V5, P342
[4] CONNELL CR, 1987, Patent No. 300998917
[5] HUMAN HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE - A SINGLE NUCLEOTIDE SUBSTITUTION IN CDNA CLONES ISOLATED FROM A PATIENT WITH LESCH-NYHAN SYNDROME (HPRTMIDLAND)
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[6] GENETIC-BASIS OF HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN A PATIENT WITH THE LESCH-NYHAN SYNDROME (HPRTFLINT)
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[J]. GENE, 1988, 63 (02) : 331 - 336
[7] IDENTIFICATION OF A SINGLE NUCLEOTIDE CHANGE IN A MUTANT-GENE FOR HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (HPRT ANN-ARBOR)
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HIDAKA, Y
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PALELLA, TD
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[J]. HUMAN GENETICS, 1988, 79 (01) : 39 - 43
[8] GENERATION OF SINGLE-STRANDED-DNA BY THE POLYMERASE CHAIN-REACTION AND ITS APPLICATION TO DIRECT SEQUENCING OF THE HLA-DQA LOCUS
GYLLENSTEN, UB
ERLICH, HA
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (20) : 7652 - 7656
[9] KELLEY WN, 1983, METABOLIC BASIS INHE, P1115
[10] ALPHA-1-ANTITRYPSIN DEFICIENCY DETECTION BY DIRECT ANALYSIS OF THE MUTATION IN THE GENE
KIDD, VJ
WALLACE, RB
ITAKURA, K
WOO, SLC
[J]. NATURE, 1983, 304 (5923) : 230 - 234

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