A FACTOR-IX MUTATION, VERIFIED BY DIRECT GENOMIC SEQUENCING, CAUSES HAEMOPHILIA-B BY A NOVEL MECHANISM

被引:34
作者
TSANG, TC [1 ]
BENTLEY, DR [1 ]
MIBASHAN, RS [1 ]
GIANNELLI, F [1 ]
机构
[1] UNIV LONDON KINGS COLL HOSP,CTR HAEMOPHILIA,LONDON SE5 9RS,ENGLAND
关键词
D O I
10.1002/j.1460-2075.1988.tb03164.x
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:3009 / 3015
页数:7
相关论文
共 69 条
  • [41] CHARACTERIZATION OF BOVINE PROTHROMBIN MESSENGER-RNA AND ITS TRANSLATION PRODUCT
    MACGILLIVRAY, RTA
    DAVIE, EW
    [J]. BIOCHEMISTRY, 1984, 23 (08) : 1626 - 1634
  • [42] MANIATIS T, 1982, MOL CLONING LABORATO
  • [43] EVIDENCE FOR A PREVALENT DIMORPHISM IN THE ACTIVATION PEPTIDE OF HUMAN COAGULATION FACTOR-IX
    MCGRAW, RA
    DAVIS, LM
    NOYES, CM
    LUNDBLAD, RL
    ROBERTS, HR
    GRAHAM, JB
    STAFFORD, DW
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (09) : 2847 - 2851
  • [44] MELTON DA, 1984, NUCLEIC ACIDS RES, V12, P7035, DOI 10.1093/nar/12.18.7035
  • [45] A NEW PAIR OF M13 VECTORS FOR SELECTING EITHER DNA STRAND OF DOUBLE-DIGEST RESTRICTION FRAGMENTS
    MESSING, J
    VIEIRA, J
    [J]. GENE, 1982, 19 (03) : 269 - 276
  • [46] IDENTIFICATION OF THE MOLECULAR DEFECT IN FACTOR-IXCHAPEL-HILL - SUBSTITUTION OF HISTIDINE FOR ARGININE AT POSITION 145
    NOYES, CM
    GRIFFITH, MJ
    ROBERTS, HR
    LUNDBLAD, RL
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (14): : 4200 - 4202
  • [47] HEMOPHILIA-B CAUSED BY A POINT MUTATION IN A DONOR SPLICE JUNCTION OF THE HUMAN FACTOR-IX GENE
    REES, DJG
    RIZZA, CR
    BROWNLEE, GG
    [J]. NATURE, 1985, 316 (6029) : 643 - 645
  • [48] REITSMA PH, 1987, THROMB HAEMOSTASIS, V58, P294
  • [49] LABELING DEOXYRIBONUCLEIC-ACID TO HIGH SPECIFIC ACTIVITY INVITRO BY NICK TRANSLATION WITH DNA-POLYMERASE I
    RIGBY, PWJ
    DIECKMANN, M
    RHODES, C
    BERG, P
    [J]. JOURNAL OF MOLECULAR BIOLOGY, 1977, 113 (01) : 237 - 251
  • [50] ENZYMATIC AMPLIFICATION OF BETA-GLOBIN GENOMIC SEQUENCES AND RESTRICTION SITE ANALYSIS FOR DIAGNOSIS OF SICKLE-CELL ANEMIA
    SAIKI, RK
    SCHARF, S
    FALOONA, F
    MULLIS, KB
    HORN, GT
    ERLICH, HA
    ARNHEIM, N
    [J]. SCIENCE, 1985, 230 (4732) : 1350 - 1354