A NOVEL 13 BP DELETION IN THE 3'UTR OF THE BETA-GLOBIN GENE CAUSES BETA-THALASSEMIA IN A TURKISH PATIENT

被引：28

作者：

BASAK, AN ^{[1
]}

OZER, A ^{[1
]}

KIRDAR, B ^{[1
]}

AKAR, N ^{[1
]}

机构：

[1] UNIV ANKARA,CHILDRENS HOSP,SCH MED,ANKARA,TURKEY

来源：

HEMOGLOBIN | 1993年 / 17卷 / 06期

关键词：

D O I：

10.3109/03630269309043496

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：

[No abstract available]

引用

页码：551 / 555

页数：5

共 17 条

[1]

AULEHLASCHOLZ C, 1990, HUM GENET, V84, P195

[2] THE MOLECULAR-BASIS OF BETA-THALASSEMIA IN TURKEY [J].

BASAK, AN ;

OZCELIK, H ;

OZER, A ;

TOLUN, A ;

AKSOY, M ;

AGAOGLU, L ;

RIDOLFI, F ;

ULUKUTLU, L ;

AKAR, N ;

GURGEY, A ;

KIRDAR, B .

HUMAN GENETICS, 1992, 89 (03) :315-318

[3] THE POLY(A)-POLY(A)-BINDING PROTEIN COMPLEX IS A MAJOR DETERMINANT OF MESSENGER-RNA STABILITY INVITRO [J].

BERNSTEIN, P ;

PELTZ, SW ;

ROSS, J .

MOLECULAR AND CELLULAR BIOLOGY, 1989, 9 (02) :659-670

[4]

CAI SP, 1991, HUM GENET, V87, P728, DOI 10.1007/BF00201734

[5]

ENG B, 1992, BLOOD, V80, P1365

[6]

GONZALEZREDONDO JM, 1988, BLOOD, V72, P1007

[7] SEVERE HB S-BETA-DEGREES-THALASSAEMIA WITH A T-]C SUBSTITUTION IN THE DONOR SPLICE SITE OF THE 1ST INTRON OF THE BETA-GLOBIN GENE [J].

GONZALEZREDONDO, JM ;

STOMING, TA ;

KUTLAR, F ;

KUTLAR, A ;

MCKIE, VC ;

MCKIE, KM ;

HUISMAN, THJ .

BRITISH JOURNAL OF HAEMATOLOGY, 1989, 71 (01) :113-117

[8] HB-MONROE OR ALPHA-2-BETA-230(B12)ARG-]THR, A VARIANT ASSOCIATED WITH BETA-THALASSEMIA DUE TO A G-]C SUBSTITUTION ADJACENT TO THE DONOR SPLICE SITE OF THE 1ST INTRON [J].

GONZALEZREDONDO, JM ;

STOMING, TA ;

KUTLAR, F ;

KUTLAR, A ;

HU, H ;

WILSON, JB ;

HUISMAN, THJ .

HEMOGLOBIN, 1989, 13 (01) :67-74

[9]

GONZALEZREDONDO JM, 1989, BLOOD, V73, P1705

[10] GENERATION OF SINGLE-STRANDED-DNA BY THE POLYMERASE CHAIN-REACTION AND ITS APPLICATION TO DIRECT SEQUENCING OF THE HLA-DQA LOCUS [J].

GYLLENSTEN, UB ;

ERLICH, HA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (20) :7652-7656

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