HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE - IDENTIFICATION OF ALLELIC MUTATIONS AT THE NUCLEOTIDE LEVEL AS A CAUSE OF COMPLETE DEFICIENCY OF THE ENZYME

被引：78

作者：

HIDAKA, Y ^{[1
]}

PALELLA, TD ^{[1
]}

OTOOLE, TE ^{[1
]}

TARLE, SA ^{[1
]}

KELLEY, WN ^{[1
]}

机构：

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

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1987年 / 80卷 / 05期

关键词：

D O I：

10.1172/JCI113219

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：1409 / 1415

页数：7

共 44 条

[1] SEQUENCE REQUIREMENTS FOR SPLICING OF HIGHER EUKARYOTIC NUCLEAR PRE-MESSENGER-RNA [J].

AEBI, M ;

HORNIG, H ;

PADGETT, RA ;

REISER, J ;

WEISSMANN, C .

CELL, 1986, 47 (04) :555-565

[2] PURIFICATION OF BIOLOGICALLY-ACTIVE GLOBIN MESSENGER-RNA BY CHROMATOGRAPHY ON OLIGOTHYMIDYLIC-ACID-CELLULOSE [J].

AVIV, H ;

LEDER, P .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (06) :1408-&

[3]

BREATHNACH R, 1981, ANNU REV BIOCHEM, V50, P349, DOI 10.1146/annurev.bi.50.070181.002025

[4]

CARTIER P, 1974, CR ACAD SCI D NAT, V279, P883

[5] ISOLATION OF BIOLOGICALLY-ACTIVE RIBONUCLEIC-ACID FROM SOURCES ENRICHED IN RIBONUCLEASE [J].

CHIRGWIN, JM ;

PRZYBYLA, AE ;

MACDONALD, RJ ;

RUTTER, WJ .

BIOCHEMISTRY, 1979, 18 (24) :5294-5299

[6] TIGHT LINKAGE BETWEEN A SPLICING MUTATION AND A SPECIFIC DNA HAPLOTYPE IN PHENYLKETONURIA [J].

DILELLA, AG ;

MARVIT, J ;

LIDSKY, AS ;

GUTTLER, F ;

WOO, SLC .

NATURE, 1986, 322 (6082) :799-803

[7] THE STRUCTURE AND EVOLUTION OF THE HUMAN BETA-GLOBIN GENE FAMILY [J].

EFSTRATIADIS, A ;

POSAKONY, JW ;

MANIATIS, T ;

LAWN, RM ;

OCONNELL, C ;

SPRITZ, RA ;

DERIEL, JK ;

FORGET, BG ;

WEISSMAN, SM ;

SLIGHTOM, JL ;

BLECHL, AE ;

SMITHIES, O ;

BARALLE, FE ;

SHOULDERS, CC ;

PROUDFOOT, NJ .

CELL, 1980, 21 (03) :653-668

[8] GENETIC STUDIES OF THE LAC REPRESSOR .7. MOLECULAR NATURE OF SPONTANEOUS HOTSPOTS IN THE LACI GENE OF ESCHERICHIA-COLI [J].

FARABAUGH, PJ ;

SCHMEISSNER, U ;

HOFER, M ;

MILLER, JH .

JOURNAL OF MOLECULAR BIOLOGY, 1978, 126 (04) :847-863

[9] A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].

FEINBERG, AP ;

VOGELSTEIN, B .

ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13

[10]

FOX IH, 1977, ADV EXP MED BIOL A, V76, P265

← 1 2 3 4 5 →