A NOVEL MUTATION (VAL-373 TO GLU) IN THE CATALYTIC DOMAIN OF FACTOR-IX, RESULTING IN MODERATELY SEVERE HEMOPHILIA-B IN A SOUTHERN FRENCH PATIENT

被引：3

作者：

AGUILARMARTINEZ, P ^{[1
]}

ROMEY, MC ^{[1
]}

GRIS, JC ^{[1
]}

SCHVED, JF ^{[1
]}

DEMAILLE, J ^{[1
]}

CLAUSTRES, M ^{[1
]}

机构：

[1] HOP GASTON DOUMERGUE,HEMATOL LAB,F-30000 NIMES,FRANCE

来源：

HUMAN MUTATION | 1994年 / 3卷 / 02期

关键词：

D O I：

10.1002/humu.1380030211

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：156 / 158

页数：3

共 13 条

[1] THE GENE STRUCTURE OF HUMAN ANTI-HEMOPHILIC FACTOR-IX [J].

ANSON, DS ;

CHOO, KH ;

REES, DJG ;

GIANNELLI, F ;

GOULD, K ;

HUDDLESTON, JA ;

BROWNLEE, GG .

EMBO JOURNAL, 1984, 3 (05) :1053-1060

[2] MUTATIONS IN THE CATALYTIC DOMAIN OF HUMAN COAGULATION FACTOR-IX - RAPID CHARACTERIZATION BY DIRECT GENOMIC SEQUENCING OF DNA FRAGMENTS DISPLAYING AN ALTERED MELTING BEHAVIOR [J].

ATTREE, O ;

VIDAUD, D ;

VIDAUD, M ;

AMSELEM, S ;

LAVERGNE, JM ;

GOOSSENS, M .

GENOMICS, 1989, 4 (03) :266-272

[3]

BOTTEMA CDK, 1990, AM J HUM GENET, V47, P835

[4]

BOTTEMA CDK, 1991, AM J HUM GENET, V49, P820

[5] MOLECULAR DEFECTS IN HEMOPHILIA-B - DETECTION BY DIRECT RESTRICTION ENZYME ANALYSIS [J].

CHAN, V ;

YIP, B ;

TONG, TMF ;

CHAN, TPT ;

LAU, K ;

YAM, I ;

CHAN, TK .

BRITISH JOURNAL OF HAEMATOLOGY, 1991, 79 (01) :63-69

[6] CG DINUCLEOTIDE TRANSITIONS IN THE FACTOR-IX GENE ACCOUNT FOR ABOUT HALF OF THE POINT MUTATIONS IN HEMOPHILIA-B PATIENTS - A SEATTLE SERIES [J].

CHEN, SH ;

ZHANG, M ;

LOVRIEN, EW ;

SCOTT, CR ;

THOMPSON, AR .

HUMAN GENETICS, 1991, 87 (02) :177-182

[7]

Ghanem N., 1993, European Journal of Human Genetics, V1, P144

[8] HEMOPHILIA-B - DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS - 3RD EDITION, 1992 [J].

GIANNELLI, F ;

GREEN, PM ;

HIGH, KA ;

SOMMER, S ;

LILLICRAP, DP ;

LUDWIG, M ;

OLEK, K ;

REITSMA, PH ;

GOOSSENS, M ;

YOSHIOKA, A ;

BROWNLEE, GG .

NUCLEIC ACIDS RESEARCH, 1992, 20 :2027-2063

[9]

GREEN PM, 1992, THROMB HAEMOSTASIS, V67, P66

[10]

KOEBERL DD, 1989, AM J HUM GENET, V45, P448

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