MUTATIONS IN THE HUMAN ADENOSINE-DEAMINASE GENE THAT AFFECT PROTEIN-STRUCTURE AND RNA SPLICING

被引:49
作者
AKESON, AL
WIGINTON, DA
STATES, JC
PERME, CM
DUSING, MR
HUTTON, JJ
机构
[1] CHILDRENS HOSP RES FDN,CINCINNATI,OH 45229
[2] UNIV CINCINNATI,COLL MED,CINCINNATI,OH 45229
关键词
D O I
10.1073/pnas.84.16.5947
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
收藏
页码:5947 / 5951
页数:5
相关论文
共 32 条
[1]   CHARACTERIZATION OF NORMAL AND MUTANT ADENOSINE-DEAMINASE MESSENGER-RNAS BY TRANSLATION AND HYBRIDIZATION TO A CDNA PROBE [J].
ADRIAN, GS ;
WIGINTON, DA ;
HUTTON, JJ .
HUMAN GENETICS, 1984, 68 (02) :169-172
[2]   STRUCTURE OF ADENOSINE-DEAMINASE MESSENGER-RNAS FROM NORMAL AND ADENOSINE DEAMINASE-DEFICIENT HUMAN CELL-LINES [J].
ADRIAN, GS ;
WIGINTON, DA ;
HUTTON, JJ .
MOLECULAR AND CELLULAR BIOLOGY, 1984, 4 (09) :1712-1717
[3]   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
[5]  
BARR PJ, 1986, BIOTECHNIQUES, V4, P428
[6]   SIZING AND MAPPING OF EARLY ADENOVIRUS MESSENGER-RNAS BY GEL-ELECTROPHORESIS OF S1 ENDONUCLEASE-DIGESTED HYBRIDS [J].
BERK, AJ ;
SHARP, PA .
CELL, 1977, 12 (03) :721-732
[7]   IDENTIFICATION OF A POINT MUTATION IN THE ADENOSINE-DEAMINASE GENE RESPONSIBLE FOR IMMUNODEFICIENCY [J].
BONTHRON, DT ;
MARKHAM, AF ;
GINSBURG, D ;
ORKIN, SH .
JOURNAL OF CLINICAL INVESTIGATION, 1985, 76 (02) :894-897
[8]  
DADDONA PE, 1984, J BIOL CHEM, V259, P2101
[9]   ISOENZYME STUDIES IN HUMAN LEUKEMIA-LYMPHOMA CELL-LINES .1. CARBOXYLIC ESTERASE [J].
DREXLER, HG ;
GAEDICKE, G ;
MINOWADA, J .
LEUKEMIA RESEARCH, 1985, 9 (02) :209-&
[10]  
DUNCAN CH, 1985, NEW ENGL NUCL PRODUC, V4, P6