FRAMESHIFT CODON-5 [FSC-5 (-CT)] THALASSEMIA - A NOVEL MUTATION DETECTED IN A GREEK PATIENT

被引：29
作者：
KOLLIA, P
GONZALEZREDONDO, JM
STOMING, TA
LOUKOPOULOS, D
POLITIS, C
HUISMAN, THJ
机构：
[1] DRAKOPOULEION HELLEN RED CROSS TRANSFUS CTR, GR-10439 ATHENS, GREECE
[2] MED COLL GEORGIA, DEPT CELL & MOLEC BIOL, AUGUSTA, GA 30912 USA
来源：
HEMOGLOBIN | 1989年 / 13卷 / 06期
关键词：
D O I：
10.3109/03630268908993110
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：597 / 604
页数：8
相关论文
共 25 条
[1]   DNA POLYMORPHISM AND MOLECULAR PATHOLOGY OF THE HUMAN GLOBIN GENE CLUSTERS [J].
ANTONARAKIS, SE ;
KAZAZIAN, HH ;
ORKIN, SH .
HUMAN GENETICS, 1985, 69 (01) :1-14
[2]   NONRANDOM ASSOCIATION OF POLYMORPHIC RESTRICTION SITES IN THE BETA-GLOBIN GENE-CLUSTER [J].
ANTONARAKIS, SE ;
BOEHM, CD ;
GIARDINA, PJV ;
KAZAZIAN, HH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (01) :137-141
[3]  
CHAN V, 1988, BLOOD, V72, P1420
[4]   BETA-THALASSEMIA IN CHINESE - USE OF INVIVO RNA ANALYSIS AND OLIGONUCLEOTIDE HYBRIDIZATION IN SYSTEMATIC CHARACTERIZATION OF MOLECULAR DEFECTS [J].
CHENG, TC ;
ORKIN, SH ;
ANTONARAKIS, SE ;
POTTER, MJ ;
SEXTON, JP ;
MARKHAM, AF ;
GIARDINA, PJV ;
LI, A ;
KAZAZIAN, HH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (09) :2821-2825
[5]   THE DETECTION OF BETA-GLOBIN GENE-MUTATIONS IN BETA-THALASSEMIA USING OLIGONUCLEOTIDE PROBES AND AMPLIFIED DNA [J].
DIAZCHICO, JC ;
YANG, KG ;
YANG, KY ;
EFREMOV, DG ;
STOMING, TA ;
HUISMAN, THJ .
BIOCHIMICA ET BIOPHYSICA ACTA, 1988, 949 (01) :43-48
[6]  
DIMARZO R, 1988, BRIT J HAEMATOL, V69, P393
[7]  
EFREMOV GD, 1974, CLIN HAEMATOL, V3, P527
[8]  
FESSAS P, 1974, CLIN HAEMATOL, V3, P411
[9]  
GONZALEZREDONDO JM, 1988, BLOOD, V72, P1007
[10]  
KAZAZIAN HH, 1984, EMBO J, V3, P593, DOI 10.1002/j.1460-2075.1984.tb01853.x
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