A 2ND CASE OF VARIANT OF GLANZMANNS-THROMBASTHENIA DUE TO SUBSTITUTION OF PLATELET GPIIIA (INTEGRIN BETA(3)) ARG214 BY TRP

被引：22

作者：

DJAFFAR, I ^{[1
]}

ROSA, JP ^{[1
]}

机构：

[1] HOP LARIBOISIERE,INSERM,U348,F-75475 PARIS 10,FRANCE

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 12期

关键词：

D O I：

10.1093/hmg/2.12.2179

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：2179 / 2180

页数：2

共 13 条

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[3] A DELETION IN THE GENE FOR GLYCOPROTEIN-IIB ASSOCIATED WITH GLANZMANN THROMBASTHENIA
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[4] SER-752-]PRO MUTATION IN THE CYTOPLASMIC DOMAIN OF INTEGRIN-BETA-3 SUBUNIT AND DEFECTIVE ACTIVATION OF PLATELET INTEGRIN-ALPHA-IIB-BETA-3 (GLYCOPROTEIN-IIB-IIIA) IN A VARIANT OF GLANZMANN THROMBASTHENIA
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (21) : 10169 - 10173
[5] FOURNIER DJ, 1989, THROMB HAEMOSTASIS, V62, P977
[6] GEORGE JN, 1990, BLOOD, V75, P1383
[7] IDENTIFICATION OF A NONSENSE MUTATION AT AMINO-ACID 584-ARGININE OF PLATELET GLYCOPROTEIN IIB IN PATIENTS WITH TYPE-I GLANZMANN THROMBASTHENIA
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[J]. BRITISH JOURNAL OF HAEMATOLOGY, 1993, 83 (03) : 442 - 449
[8] KATO A, 1992, BLOOD, V79, P3212
[9] A NEW VARIANT OF GLANZMANN THROMBASTHENIA (STRASBOURG-I) - PLATELETS WITH FUNCTIONALLY DEFECTIVE GLYCOPROTEIN IIB-IIIA COMPLEXES AND A GLYCOPROTEIN-IIIA (214)ARG-](214)TRP MUTATION
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STIERLE, A
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ANDRE, G
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CAZENAVE, JP
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1992, 89 (06) : 1995 - 2004
[10] A BETA-3 INTEGRIN MUTATION ABOLISHES LIGAND-BINDING AND ALTERS DIVALENT-CATION DEPENDENT CONFORMATION
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OTOOLE, TE
PLOW, EF
GLASS, A
FRELINGER, AL
GINSBERG, MH
[J]. SCIENCE, 1990, 249 (4971) : 915 - 918

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