RECURRENT MUTATIONS IN HEMOPHILIA-A GIVE EVIDENCE FOR CPG MUTATION HOTSPOTS

被引:248
作者
YOUSSOUFIAN, H
KAZAZIAN, HH
PHILLIPS, DG
ARONIS, S
TSIFTIS, G
BROWN, VA
ANTONARAKIS, SE
机构
[1] UNIV ATHENS, SCH MED, DEPT PEDIAT 1, COAGULAT LAB, ATHENS, GREECE
[2] COLLABORAT RES INC, LEXINGTON, MA 02173 USA
关键词
D O I
10.1038/324380a0
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
收藏
页码:380 / 382
页数:3
相关论文
共 23 条
  • [1] ANTONARAKIS SE, 1985, LANCET, V1, P1407
  • [2] HEMOPHILIA-A - DETECTION OF MOLECULAR DEFECTS AND OF CARRIERS BY DNA ANALYSIS
    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
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (14) : 842 - 848
  • [3] RESTRICTION SITES CONTAINING CPG SHOW A HIGHER FREQUENCY OF POLYMORPHISM IN HUMAN DNA
    BARKER, D
    SCHAFER, M
    WHITE, R
    [J]. CELL, 1984, 36 (01) : 131 - 138
  • [4] DNA METHYLATION AND THE FREQUENCY OF CPG IN ANIMAL DNA
    BIRD, AP
    [J]. NUCLEIC ACIDS RESEARCH, 1980, 8 (07) : 1499 - 1504
  • [5] CHEHAB FF, 1986, LANCET, V1, P3
  • [6] MOLECULAR-BASIS OF BASE SUBSTITUTION HOTSPOTS IN ESCHERICHIA-COLI
    COULONDRE, C
    MILLER, JH
    FARABAUGH, PJ
    GILBERT, W
    [J]. NATURE, 1978, 274 (5673) : 775 - 780
  • [7] GILL FM, 1984, FACTOR 8 INHIBITORS, P19
  • [8] DETECTION AND SEQUENCE OF MUTATIONS IN THE FACTOR-VIII GENE OF HEMOPHILIACS
    GITSCHIER, J
    WOOD, WI
    TUDDENHAM, EGD
    SHUMAN, MA
    GORALKA, TM
    CHEN, EY
    LAWN, RM
    [J]. NATURE, 1985, 315 (6018) : 427 - 430
  • [9] CHARACTERIZATION OF THE HUMAN FACTOR-VIII GENE
    GITSCHIER, J
    WOOD, WI
    GORALKA, TM
    WION, KL
    CHEN, EY
    EATON, DH
    VEHAR, GA
    CAPON, DJ
    LAWN, RM
    [J]. NATURE, 1984, 312 (5992) : 326 - 330
  • [10] IDENTIFICATION OF A MISSENSE MUTATION IN THE FACTOR-VIII GENE OF A MILD HEMOPHILIAC
    GITSCHIER, J
    WOOD, WI
    SHUMAN, MA
    LAWN, RM
    [J]. SCIENCE, 1986, 232 (4756) : 1415 - 1416