CHARACTERIZATION OF 5 PARTIAL DELETIONS OF THE FACTOR-VIII GENE

被引：99

作者：

YOUSSOUFIAN, H ^{[1
]}

ANTONARAKIS, SE ^{[1
]}

ARONIS, S ^{[1
]}

TSIFTIS, G ^{[1
]}

PHILLIPS, DG ^{[1
]}

KAZAZIAN, HH ^{[1
]}

机构：

[1] UNIV ATHENS,SCH MED,DEPT PEDIAT 1,ATHENS,GREECE

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1987年 / 84卷 / 11期

关键词：

D O I：

10.1073/pnas.84.11.3772

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：3772 / 3776

页数：5

共 27 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] INTRON-MEDIATED RECOMBINATION MAY CAUSE A DELETION IN AN ALPHA-1 TYPE-I COLLAGEN CHAIN IN A LETHAL FORM OF OSTEOGENESIS IMPERFECTA [J].

BARSH, GS ;

ROUSH, CL ;

BONADIO, J ;

BYERS, PH ;

GELINAS, RE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (09) :2870-2874

[3]

BREATHNACH R, 1981, ANNU REV BIOCHEM, V50, P349, DOI 10.1146/annurev.bi.50.070181.002025

[4] CAUSE OF THE INHIBITOR PHENOTYPE IN THE HEMOPHILIAS [J].

GIANNELLI, F ;

BROWNLEE, GG .

NATURE, 1986, 320 (6058) :196-196

[5]

GIANNELLI F, 1983, NATURE, V303, P181, DOI 10.1038/303181a0

[6]

GILL FM, 1984, FACTOR 8 INHIBITORS, P19

[7] 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

[8] 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

[9] 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

[10] REPORT OF THE COMMITTEE ON THE GENETIC CONSTITUTION OF THE X-CHROMOSOMES AND Y-CHROMOSOMES [J].

GOODFELLOW, PN ;

DAVIES, KE ;

ROPERS, HH .

CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4) :296-352

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