CHARACTERIZATION OF A PARTIAL DELETION OF THE FACTOR-VIII GENE IN A HEMOPHILIAC WITH INHIBITOR

被引:10
作者
BARDONI, B
SAMPIETRO, M
ROMANO, M
CRAPANZANO, M
MANNUCCI, PM
CAMERINO, G
机构
[1] UNIV PAVIA,DIPARTIMENTO GENET & MICROBIOL,CP 217,I-27100 PAVIA,ITALY
[2] UNIV MILAN,IST MED INTERNA,I-20122 MILAN,ITALY
[3] UNIV MILAN,CTR EMOFILIA & TROMBOSI A,I-20122 MILAN,ITALY
关键词
D O I
10.1007/BF00291718
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:86 / 88
页数:3
相关论文
共 14 条
[1]   HEMOPHILIA-A - DETECTION OF MOLECULAR DEFECTS AND OF CARRIERS BY DNA ANALYSIS [J].
ANTONARAKIS, SE ;
WABER, PG ;
KITTUR, SD ;
PATEL, AS ;
KAZAZIAN, HH ;
MELLIS, MA ;
COUNTS, RB ;
STAMATOYANNOPOULOS, G ;
BOWIE, EJW ;
FASS, DN ;
PITTMAN, DD ;
WOZNEY, JM ;
TOOLE, JJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (14) :842-848
[2]   REGIONAL LOCALIZATION ON THE HUMAN X-CHROMOSOME AND POLYMORPHISM OF THE COAGULATION FACTOR-IX GENE (HEMOPHILIA-B LOCUS) [J].
CAMERINO, G ;
GRZESCHIK, KH ;
JAYE, M ;
DELASALLE, H ;
TOLSTOSHEV, P ;
LECOCQ, JP ;
HEILIG, R ;
MANDEL, JL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (02) :498-502
[3]  
CAMERINO G, 1986, RES CLIN LAB, V16, P227
[4]  
CASARINO L, 1986, RES CLIN LAB, V16, P227
[5]  
DIN N, 1986, RES CLIN LAB, V16, P182
[6]   DETECTION AND SEQUENCE OF MUTATIONS IN THE FACTOR-VIII GENE OF HEMOPHILIACS [J].
GITSCHIER, J ;
WOOD, WI ;
TUDDENHAM, EGD ;
SHUMAN, MA ;
GORALKA, TM ;
CHEN, EY ;
LAWN, RM .
NATURE, 1985, 315 (6018) :427-430
[7]   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
[8]   IDENTIFICATION OF A MISSENSE MUTATION IN THE FACTOR-VIII GENE OF A MILD HEMOPHILIAC [J].
GITSCHIER, J ;
WOOD, WI ;
SHUMAN, MA ;
LAWN, RM .
SCIENCE, 1986, 232 (4756) :1415-1416
[9]   The rate of spontaneous mutation of a human gene [J].
Haldane, JBS .
JOURNAL OF GENETICS, 1935, 31 (03) :317-326
[10]   MOLECULAR-CLONING OF A CDNA-ENCODING HUMAN ANTIHEMOPHILIC-FACTOR [J].
TOOLE, JJ ;
KNOPF, JL ;
WOZNEY, JM ;
SULTZMAN, LA ;
BUECKER, JL ;
PITTMAN, DD ;
KAUFMAN, RJ ;
BROWN, E ;
SHOEMAKER, C ;
ORR, EC ;
AMPHLETT, GW ;
FOSTER, WB ;
COE, ML ;
KNUTSON, GJ ;
FASS, DN ;
HEWICK, RM .
NATURE, 1984, 312 (5992) :342-347