TYPE-I C1 INHIBITOR DEFICIENCY WITH A SMALL MESSENGER-RNA RESULTING FROM DELETION OF ONE EXON

被引：43
作者：
ARIGA, T
IGARASHI, T
RAMESH, N
PARAD, R
CICARDI, M
DAVIS, AE
机构：
[1] CHILDRENS HOSP MED CTR,DIV IMMUNOL,300 LONGWOOD AVE,BOSTON,MA 02115
[2] CHILDRENS HOSP MED CTR,DIV NEPHROL,BOSTON,MA 02115
[3] HARVARD UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02115
[4] UNIV TOKYO HOSP,DEPT PEDIAT,TOKYO,JAPAN
[5] UNIV MILAN,OSPED S PAOLO,CATTEDRA CLIN MED,I-20122 MILAN,ITALY
来源：
JOURNAL OF CLINICAL INVESTIGATION | 1989年 / 83卷 / 06期
关键词：
D O I：
10.1172/JCI114095
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
收藏
页码：1888 / 1893
页数：6
相关论文
共 42 条
[31]   GENETICALLY DETERMINED HETEROGENEITY OF C1 ESTERASE INHIBITOR IN PATIENTS WITH HEREDITARY ANGIONEUROTIC EDEMA [J].
ROSEN, FS ;
ALPER, CA ;
PENSKY, J ;
KLEMPERER, MR ;
DONALDSON, VH .
JOURNAL OF CLINICAL INVESTIGATION, 1971, 50 (10) :2143-+
[32]   ENZYMATIC AMPLIFICATION OF BETA-GLOBIN GENOMIC SEQUENCES AND RESTRICTION SITE ANALYSIS FOR DIAGNOSIS OF SICKLE-CELL ANEMIA [J].
SAIKI, RK ;
SCHARF, S ;
FALOONA, F ;
MULLIS, KB ;
HORN, GT ;
ERLICH, HA ;
ARNHEIM, N .
SCIENCE, 1985, 230 (4732) :1350-1354
[33]   PRIMER-DIRECTED ENZYMATIC AMPLIFICATION OF DNA WITH A THERMOSTABLE DNA-POLYMERASE [J].
SAIKI, RK ;
GELFAND, DH ;
STOFFEL, S ;
SCHARF, SJ ;
HIGUCHI, R ;
HORN, GT ;
MULLIS, KB ;
ERLICH, HA .
SCIENCE, 1988, 239 (4839) :487-491
[34]   DNA SEQUENCING WITH CHAIN-TERMINATING INHIBITORS [J].
SANGER, F ;
NICKLEN, S ;
COULSON, AR .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (12) :5463-5467
[35]  
STOPPA-LYONNET D, 1987, Complement, V4, P229
[36]   ALTERED C1 INHIBITOR GENES IN TYPE-I HEREDITARY ANGIOEDEMA [J].
STOPPALYONNET, D ;
TOSI, M ;
LAURENT, J ;
SOBEL, A ;
LAGRUE, G ;
MEO, T .
NEW ENGLAND JOURNAL OF MEDICINE, 1987, 317 (01) :1-6
[37]  
TAKESHITA K, 1984, BLOOD, V64, P13
[38]   HYBRIDIZATION OF DENATURED RNA AND SMALL DNA FRAGMENTS TRANSFERRED TO NITROCELLULOSE [J].
THOMAS, PS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (09) :5201-5205
[39]   EFFICIENT TRANSFER OF LARGE DNA FRAGMENTS FROM AGAROSE GELS TO DIAZOBENZYLOXYMETHYL-PAPER AND RAPID HYBRIDIZATION BY USING DEXTRAN SULFATE [J].
WAHL, GM ;
STERN, M ;
STARK, GR .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (08) :3683-3687
[40]   DNA POLYMORPHISM OF THE C4-GENES - A NEW MARKER FOR ANALYSIS OF THE MAJOR HISTOCOMPATIBILITY COMPLEX [J].
WHITEHEAD, AS ;
WOODS, DE ;
FLEISCHNICK, E ;
CHIN, JE ;
YUNIS, EJ ;
KATZ, AJ ;
GERALD, PS ;
ALPER, CA ;
COLTEN, HR .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 310 (02) :88-91
12345