DETECTION OF MUTATIONS IN THE FACTOR-VIII GENE USING SINGLE-STRANDED CONFORMATIONAL POLYMORPHISM (SSCP)

被引：19

作者：

ECONOMOU, EP

KAZAZIAN, HH

ANTONARAKIS, SE

机构：

[1] JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,DEPT PEDIAT,BALTIMORE,MD 21205

[2] JOHNS HOPKINS UNIV,SCH MED,DEPT MED,BALTIMORE,MD 21205

来源：

GENOMICS | 1992年 / 13卷 / 03期

关键词：

D O I：

10.1016/0888-7543(92)90189-Y

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

[No abstract available]

引用

页码：909 / 911

页数：3

共 8 条

[1] THE MOLECULAR-BASIS OF HEMOPHILIA A IN MAN [J].

ANTONARAKIS, SE ;

KAZAZIAN, HH .

TRENDS IN GENETICS, 1988, 4 (08) :233-237

[2] A NOVEL BETA-THALASSEMIA GENE WITH A SINGLE BASE MUTATION IN THE CONSERVED POLYPYRIMIDINE SEQUENCE AT THE 3' END OF IVS-2 [J].

BELDJORD, C ;

LAPOUMEROULIE, C ;

PAGNIER, J ;

BENABADJI, M ;

KRISHNAMOORTHY, R ;

LABIE, D ;

BANK, A .

NUCLEIC ACIDS RESEARCH, 1988, 16 (11) :4927-4935

[3]

BORDY L, 1990, AM J HUM GENET S, V47, pA214

[4]

DIMINK LS, 1990, AM J HUM GENET, V47, pA214

[5] CHARACTERIZATION OF THE HUMAN FACTOR-VIII GENE [J].

GITSCHIER, J ;

WOOD, WI ;

GORALKA, TM ;

WION, KL ;

CHEN, EY ;

EATON, DH ;

VEHAR, GA ;

CAPON, DJ ;

LAWN, RM .

NATURE, 1984, 312 (5992) :326-330

[6] MOLECULAR CHARACTERIZATION OF MILD-TO-MODERATE HEMOPHILIA-A - DETECTION OF THE MUTATION IN 25 OF 29 PATIENTS BY DENATURING GRADIENT GEL-ELECTROPHORESIS [J].

HIGUCHI, M ;

ANTONARAKIS, SE ;

KASCH, L ;

OLDENBURG, J ;

ECONOMOUPETERSEN, E ;

OLEK, K ;

ARAI, M ;

INABA, H ;

KAZAZIAN, HH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (19) :8307-8311

[7] RAPID AND SENSITIVE DETECTION OF POINT MUTATIONS AND DNA POLYMORPHISMS USING THE POLYMERASE CHAIN-REACTION [J].

ORITA, M ;

SUZUKI, Y ;

SEKIYA, T ;

HAYASHI, K .

GENOMICS, 1989, 5 (04) :874-879

[8]

YOUSSOUFIAN H, 1988, AM J HUM GENET, V42, P718

← 1 →