PRENATAL-DIAGNOSIS OF BETA-THALASSEMIA - DETECTION OF A SINGLE NUCLEOTIDE MUTATION IN DNA

被引：196

作者：

PIRASTU, M

KAN, YW

CAO, A

CONNER, BJ

TEPLITZ, RL

WALLACE, RB

机构：

[1] UNIV CALIF SAN FRANCISCO, HOWARD HUGHES MED INST LAB, SAN FRANCISCO, CA 94143 USA

[2] UNIV CALIF SAN FRANCISCO, DEPT MED, DIV GENET & MOLEC HEMATOL, SAN FRANCISCO, CA 94143 USA

[3] UNIV CAGLIARI, IST CLIN & BIOL ETA EVOLUT, I-09100 CAGLIARI, ITALY

[4] CITY HOPE RES INST & MED CTR, DIV CYTOGENET, DUARTE, CA USA

[5] CITY HOPE RES INST & MED CTR, DIV CYTOL & BIOL, DUARTE, CA USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1983年 / 309卷 / 05期

关键词：

D O I：

10.1056/NEJM198308043090506

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：284 / 287

页数：4

共 36 条

[31] 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

[32] POLYMORPHISM OF DNA-SEQUENCE ADJACENT TO HUMAN BETA-GLOBIN STRUCTURAL GENE - RELATIONSHIP TO SICKLE MUTATION [J].

WAIKAN, Y ;

DOZY, AM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (11) :5631-5635

[33]

WALLACE RB, 1981, NUCLEIC ACIDS RES, V9, P3647

[34] THALASSEMIA REVISITED [J].

WEATHERALL, DJ ;

CLEGG, JB .

CELL, 1982, 29 (01) :7-9

[35]

WILLIAMSON R, 1981, LANCET, V2, P1125

[36] USE OF RESTRICTION ENDONUCLEASES FOR MAPPING THE ALLELE FOR BETA-S-GLOBIN [J].

WILSON, JT ;

MILNER, PF ;

SUMMER, ME ;

NALLASETH, FS ;

FADEL, HE ;

REINDOLLAR, RH ;

MCDONOUGH, PG ;

WILSON, LB .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (11) :3628-3631

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