BETA-O THALASSEMIA IN SARDINIA IS CAUSED BY A NONSENSE MUTATION

被引:183
作者
TRECARTIN, RF
LIEBHABER, SA
CHANG, JC
LEE, KY
KAN, YW
FURBETTA, M
ANGIUS, A
CAO, A
机构
[1] UNIV CALIF SAN FRANCISCO, HOWARD HUGHES MED INST LAB, SAN FRANCISCO, CA 94143 USA
[2] UNIV CALGLIARI, PEDIAT CLIN, CALGLIARI, ITALY
[3] UNIV CALIF SAN FRANCISCO, DEPT MED, SAN FRANCISCO, CA 94143 USA
关键词
D O I
10.1172/JCI110323
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
引用
收藏
页码:1012 / 1017
页数:6
相关论文
共 38 条
  • [1] DISORDERS OF HUMAN-HEMOGLOBIN
    BANK, A
    MEARS, JG
    RAMIREZ, F
    [J]. SCIENCE, 1980, 207 (4430) : 486 - 493
  • [2] VARIABILITY IN AMOUNT OF BETA-GLOBIN MESSENGER-RNA IN BETA-O THALASSEMIA
    BENZ, EJ
    HILLMAN, DG
    COHENSOLAL, M
    PRITCHARD, J
    CAVALLESCO, C
    PRENSKY, W
    HOUSMAN, D
    FORGET, BG
    [J]. CELL, 1978, 14 (02) : 299 - 312
  • [3] Bunn HF, 1977, HUMAN HEMOGLOBINS
  • [4] BETA-THALASSEMIA TYPES IN SOUTHERN SARDINIA
    CAO, A
    FURBETTA, M
    XIMENES, A
    ANGIUS, A
    ROSATELLI, C
    TUVERI, T
    SCALAS, MT
    FALCHI, AM
    MACCIONI, L
    MELIS, MA
    GALANELLO, R
    [J]. JOURNAL OF MEDICAL GENETICS, 1981, 18 (03) : 196 - 199
  • [5] BETA-O THALASSEMIA, A NONSENSE MUTATION IN MAN
    CHANG, JC
    WAIKAN, Y
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (06) : 2886 - 2889
  • [6] SUPPRESSION OF THE NONSENSE MUTATION IN HOMOZYGOUS BETA-O-THALASSEMIA
    CHANG, JC
    TEMPLE, GF
    TRECARTIN, RF
    KAN, YW
    [J]. NATURE, 1979, 281 (5732) : 602 - 603
  • [7] COOKE NE, 1980, J BIOL CHEM, V255, P6502
  • [8] PROLONGED INCUBATION IN CALCIUM-CHLORIDE IMPROVES THE COMPETENCE OF ESCHERICHIA-COLI-CELLS
    DAGERT, M
    EHRLICH, SD
    [J]. GENE, 1979, 6 (01) : 23 - 28
  • [9] STRUCTURE OF THE HUMAN BETA-GLOBIN GENE IN BETA-THALASSEMIA
    FLAVELL, RA
    BERNARDS, R
    KOOTER, JM
    BOER, E
    LITTLE, PFR
    ANNISON, G
    WILLIAMSON, R
    [J]. NUCLEIC ACIDS RESEARCH, 1979, 6 (08) : 2749 - 2760
  • [10] MOLECULAR GENETICS OF HUMAN-HEMOGLOBIN SYNTHESIS
    FORGET, BG
    [J]. ANNALS OF INTERNAL MEDICINE, 1979, 91 (04) : 605 - 616