SCREENING FOR MUTATIONS IN THE ANTITHROMBIN-III GENE CAUSING RECURRENT VENOUS THROMBOSIS BY SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS

被引：15

作者：

MILLAR, DS

LOPEZ, A

WHITE, D

ABRAHAM, G

LAURSEN, B

HOLDING, S

REVERTER, JC

REYNAUD, J

MARTINOWITZ, U

HAYES, JPLA

KAKKAR, VV

COOPER, DN

机构：

[1] TROMBOSIS RES INST,CHARTER MOLEC GENET LAB,LONDON SW3 6LR,ENGLAND

[2] AALBORG HOSP,DK-9100 AALBORG,DENMARK

[3] KINGSTON GEN HOSP,KINGSTON HULL HU3 1UR,ENGLAND

[4] HOSP CLIN BARCELONA,E-08036 BARCELONA,SPAIN

[5] HOP NORD ST PRIEST JAREZ,CHRU,F-42277 ST PRIEST JAREZ,FRANCE

[6] NATL HEMOPHILIA CTR,IL-52621 TEL HASHOMER,ISRAEL

[7] ALL ST HOSP,CHATHAM ME4 5NG,KENT,ENGLAND

来源：

HUMAN MUTATION | 1993年 / 2卷 / 04期

关键词：

D O I：

10.1002/humu.1380020416

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：324 / 326

页数：3

共 15 条

[1]

[Anonymous], HUMAN GENE MUTATION

[2] ANTITHROMBIN-III DEFICIENCY [J].

BERESFORD, CH .

BLOOD REVIEWS, 1988, 2 (04) :239-250

[3] ANTITHROMBIN-III UTAH - PROLINE-407 TO LEUCINE MUTATION IN A HIGHLY CONSERVED REGION NEAR THE INHIBITOR REACTIVE SITE [J].

BOCK, SC ;

MARRINAN, JA ;

RADZIEJEWSKA, E .

BIOCHEMISTRY, 1988, 27 (16) :6171-6178

[4]

BOCK SC, 1989, THROMB HAEMOSTASIS, V62, P494

[5] ANTITHROMBIN DUBLIN (-3 VAL-]GLU) - AN N-TERMINAL VARIANT WHICH HAS AN ABERRANT SIGNAL PEPTIDASE CLEAVAGE SITE [J].

DALY, M ;

BRUCE, D ;

PERRY, DJ ;

PRICE, J ;

HARPER, PL ;

OMEARA, A ;

CARRELL, RW .

FEBS LETTERS, 1990, 273 (1-2) :87-90

[6] MOLECULAR-BASIS FOR HEREDITARY ANTITHROMBIN-III QUANTITATIVE DEFICIENCIES - A STOP CODON IN EXON IIIA AND A FRAMESHIFT IN EXON-VI [J].

GANDRILLE, S ;

VIDAUD, D ;

EMMERICH, J ;

CLAUSER, E ;

SIE, P ;

FIESSINGER, JN ;

ALHENCGELAS, M ;

PRIOLLET, P ;

AIACH, M .

BRITISH JOURNAL OF HAEMATOLOGY, 1991, 78 (03) :414-420

[7]

GLADSON CL, 1988, THROMB HAEMOSTASIS, V59, P18

[8]

GRUNDY CB, 1991, BLOOD, V78, P1027

[9] ANTITHROMBIN AND ITS DEFICIENCY STATES [J].

LANE, DA ;

OLDS, RR ;

THEIN, SL .

BLOOD COAGULATION & FIBRINOLYSIS, 1992, 3 (03) :315-341

[10]

LANE DA, 1993, IN PRESS THROMB HAEM

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