FACTOR-XI (PLASMA THROMBOPLASTIN ANTECEDENT) DEFICIENCY IN ASHKENAZI JEWS IS A BLEEDING DISORDER THAT CAN RESULT FROM 3 TYPES OF POINT MUTATIONS - (COAGULATION GENETIC-DEFECT POLYMERASE CHAIN-REACTION)

被引：112

作者：

ASAKAI, R ^{[1
]}

CHUNG, DW ^{[1
]}

RATNOFF, OD ^{[1
]}

DAVIE, EW ^{[1
]}

机构：

[1] CASE WESTERN RESERVE UNIV,SCH MED,DEPT MED,CLEVELAND,OH 44106

来源：

关键词：

D O I：

10.1073/pnas.86.20.7667

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：7667 / 7671

页数：5

共 32 条

[1] IDENTIFICATION OF AN ALTERED SPLICE SITE IN ASHKENAZI TAY-SACHS DISEASE
ARPAIA, E
DUMBRILLEROSS, A
MALER, T
NEOTE, K
TROPAK, M
TROXEL, C
STIRLING, JL
PITTS, JS
BAPAT, B
LAMHONWAH, AM
MAHURAN, DJ
SCHUSTER, SM
CLARKE, JTR
LOWDEN, JA
GRAVEL, RA
[J]. NATURE, 1988, 333 (6168) : 85 - 86
[2] ORGANIZATION OF THE GENE FOR HUMAN FACTOR-XI
ASAKAI, R
DAVIE, EW
CHUNG, DW
[J]. BIOCHEMISTRY, 1987, 26 (23) : 7221 - 7228
[3] INHERITANCE AND BLEEDING IN FACTOR-XI DEFICIENCY
BOLTONMAGGS, PHB
WANYIN, BY
MCCRAW, AH
SLACK, J
KERNOFF, PBA
[J]. BRITISH JOURNAL OF HAEMATOLOGY, 1988, 69 (04) : 521 - 528
[4] OBSERVING THE FOUNDER EFFECT IN HUMAN-EVOLUTION
DIAMOND, JM
ROTTER, JI
[J]. NATURE, 1987, 329 (6135) : 105 - 106
[5] AN AMINO-ACID SUBSTITUTION INVOLVED IN PHENYLKETONURIA IS IN LINKAGE DISEQUILIBRIUM WITH DNA HAPLOTYPE-2
DILELLA, AG
MARVIT, J
BRAYTON, K
WOO, SLC
[J]. NATURE, 1987, 327 (6120) : 333 - 336
[6] TIGHT LINKAGE BETWEEN A SPLICING MUTATION AND A SPECIFIC DNA HAPLOTYPE IN PHENYLKETONURIA
DILELLA, AG
MARVIT, J
LIDSKY, AS
GUTTLER, F
WOO, SLC
[J]. NATURE, 1986, 322 (6082) : 799 - 803
[7] FUJIKAWA K, 1988, METABOLIC BASIS INHE, P2189
[8] GOODMAN RM, 1979, GENETIC DISORDERS JE, P1
[9] HUMPHRIES RK, 1984, BLOOD, V64, P23
[10] KAISER K, 1986, DNA CLONING, V1, P1