FERRARA BETA-0 THALASSEMIA CAUSED BY THE BETA-39 NONSENSE MUTATION

被引:4
作者
PIRASTU, M
DELSENNO, L
CONCONI, F
VULLO, C
KAN, YW
机构
[1] UNIV CALIF SAN FRANCISCO,DEPT MED,DIV MED GENET & MOLEC HEMATOL,SAN FRANCISCO,CA 94143
[2] UNIV FERRARA,CTR STUDI BIOCHIM MORBO DICOOLEY,I-44100 FERRARA,ITALY
[3] OSPED ST ANNA,DIV PEDIAT,FERRARA,ITALY
关键词
D O I
10.1038/307076a0
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:76 / 76
页数:1
相关论文
共 11 条
[1]   SUPPRESSION OF THE NONSENSE MUTATION IN HOMOZYGOUS BETA-O-THALASSEMIA [J].
CHANG, JC ;
TEMPLE, GF ;
TRECARTIN, RF ;
KAN, YW .
NATURE, 1979, 281 (5732) :602-603
[2]   APPEARANCE OF BETA-GLOBIN SYNTHESIS IN ERYTHROID-CELLS OF FERRARA BETA-O-THALASSEMIC PATIENTS FOLLOWING BLOOD-TRANSFUSION [J].
CONCONI, F ;
DELSENNO, L ;
FERRARESE, P ;
MENINI, C ;
BORGATTI, L ;
VULLO, C ;
LABIE, D .
NATURE, 1975, 254 (5497) :256-259
[3]   INDUCTION OF BETA-GLOBIN SYNTHESIS IN BETA-THALASSEMIA OF FERRARA [J].
CONCONI, F ;
DELSENNO, L ;
ROWLEY, PT ;
VOLPATO, S ;
PONTREMOLI, S .
NATURE-NEW BIOLOGY, 1972, 238 (81) :83-+
[4]  
CONCONI F, 1980, ANN NY ACAD SCI, V334, P120
[5]   DETECTION OF SICKLE-CELL BETA-S-GLOBIN ALLELE BY HYBRIDIZATION WITH SYNTHETIC OLIGONUCLEOTIDES [J].
CONNER, BJ ;
REYES, AA ;
MORIN, C ;
ITAKURA, K ;
TEPLITZ, RL ;
WALLACE, RB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (01) :278-282
[6]   UGA TERMINATION SUPPRESSION TRANSFER RNATRP ACTIVE IN RABBIT RETICULOCYTES [J].
GELLER, AI ;
RICH, A .
NATURE, 1980, 283 (5742) :41-46
[7]   DIRECT DEMONSTRATION OF BETA-GLOBIN MESSENGER-RNA IN HOMOZYGOUS FERRARA BETA-O-THALASSAEMIA PATIENTS [J].
OTTOLENGHI, S ;
COMI, P ;
GIGLIONI, B ;
WILLIAMSON, R ;
VULLO, G ;
CONCONI, F .
NATURE, 1977, 266 (5599) :231-234
[8]   PRENATAL-DIAGNOSIS OF BETA-THALASSEMIA - DETECTION OF A SINGLE NUCLEOTIDE MUTATION IN DNA [J].
PIRASTU, M ;
KAN, YW ;
CAO, A ;
CONNER, BJ ;
TEPLITZ, RL ;
WALLACE, RB .
NEW ENGLAND JOURNAL OF MEDICINE, 1983, 309 (05) :284-287
[9]   CONSTRUCTION OF A FUNCTIONAL HUMAN SUPPRESSOR TRANSFER-RNA GENE - AN APPROACH TO GENE-THERAPY FOR BETA-THALASSEMIA [J].
TEMPLE, GF ;
DOZY, AM ;
ROY, KL ;
KAN, YW .
NATURE, 1982, 296 (5857) :537-540
[10]   BETA-O THALASSEMIA IN SARDINIA IS CAUSED BY A NONSENSE MUTATION [J].
TRECARTIN, RF ;
LIEBHABER, SA ;
CHANG, JC ;
LEE, KY ;
KAN, YW ;
FURBETTA, M ;
ANGIUS, A ;
CAO, A .
JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (04) :1012-1017