MOLECULAR-BASIS OF HEMOPHILIA-B - A DEFECTIVE ENZYME DUE TO AN UNPROCESSED PROPEPTIDE IS CAUSED BY A POINT MUTATION IN THE FACTOR-IX PRECURSOR

被引:122
作者
DIUGUID, DL [1 ]
RABIET, MJ [1 ]
FURIE, BC [1 ]
LIEBMAN, HA [1 ]
FURIE, B [1 ]
机构
[1] TUFTS UNIV,SCH MED,BOSTON,MA 02111
关键词
D O I
10.1073/pnas.83.16.5803
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:5803 / 5807
页数:5
相关论文
共 39 条
  • [1] PROALBUMIN LILLE, A NEW VARIANT OF HUMAN-SERUM ALBUMIN
    ABDO, Y
    ROUSSEAUX, J
    DAUTREVAUX, M
    [J]. FEBS LETTERS, 1981, 131 (02): : 286 - 288
  • [2] BAJAJ SP, 1982, J BIOL CHEM, V257, P4127
  • [3] SIMPLE METHOD FOR PREPARATION OF HOMOGENEOUS PHOSPHOLIPID VESICLES
    BARENHOLZ, Y
    GIBBES, D
    LITMAN, BJ
    GOLL, J
    THOMPSON, TE
    CARLSON, FD
    [J]. BIOCHEMISTRY, 1977, 16 (12) : 2806 - 2810
  • [4] HB LONG-ISLAND - A HEMOGLOBIN-VARIANT WITH A METHIONYL EXTENSION AT THE NH2 TERMINUS AND A PROLYL SUBSTITUTION FOR THE NORMAL HISTIDYL RESIDUE-2 OF THE BETA-CHAIN
    BARWICK, RC
    JONES, RT
    HEAD, CG
    SHIH, MFC
    PRCHAL, JT
    SHIH, DTB
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (14) : 4602 - 4605
  • [5] DEFECTIVE PROPEPTIDE PROCESSING OF BLOOD-CLOTTING FACTOR-IX CAUSED BY MUTATION OF ARGININE TO GLUTAMINE AT POSITION -4
    BENTLEY, AK
    REES, DJG
    RIZZA, C
    BROWNLEE, GG
    [J]. CELL, 1986, 45 (03) : 343 - 348
  • [6] ACQUIRED VITAMIN-K-DEPENDENT CARBOXYLATION DEFICIENCY IN LIVER-DISEASE
    BLANCHARD, RA
    FURIE, BC
    JORGENSEN, M
    KRUGER, SF
    FURIE, B
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1981, 305 (05) : 242 - 248
  • [7] BLANCHARD RA, 1983, J LAB CLIN MED, V101, P242
  • [8] PHOSPHOLIPID-BINDING PROPERTIES OF BOVINE FACTOR-V AND FACTOR-VA
    BLOOM, JW
    NESHEIM, ME
    MANN, KG
    [J]. BIOCHEMISTRY, 1979, 18 (20) : 4419 - 4425
  • [9] HB MARSEILLE [ALPHA-2BETA-2N-METHIONYL-2(NA2)HIS-]PRO] - A NEW BETA-CHAIN VARIANT HAVING AN EXTENDED N-TERMINUS
    BLOUQUIT, Y
    AROUS, N
    LENA, D
    DELANOEGARIN, J
    LACOMBE, C
    BARDAKDJIAN, J
    VOVAN, L
    ORSINI, A
    ROSA, J
    GALACTEROS, F
    [J]. FEBS LETTERS, 1984, 178 (02) : 315 - 318
  • [10] AMINO-TERMINAL PROCESSING OF PROTEINS - HEMOGLOBIN SOUTH FLORIDA, A VARIANT WITH RETENTION OF INITIATOR METHIONINE AND N-ALPHA-ACETYLATION
    BOISSEL, JP
    KASPER, TJ
    SHAH, SC
    MALONE, JI
    BUNN, HF
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (24) : 8448 - 8452