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

被引：36

作者：

GONZALEZREDONDO, JM

STOMING, TA

KUTLAR, F

KUTLAR, A

HU, H

WILSON, JB

HUISMAN, THJ

机构：

来源：

HEMOGLOBIN | 1989年 / 13卷 / 01期

关键词：

D O I：

10.3109/03630268908998053

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

页码：67 / 74

页数：8

共 28 条

[1] HAPLOTYPES AND LEVELS OF FETAL HEMOGLOBIN AND G-GAMMA TO A-GAMMA RATIOS IN MEDITERRANEAN PATIENTS WITH THALASSEMIA MINOR AND MAJOR [J].

AKSOY, M ;

KUTLAR, A ;

EFREMOV, GD ;

NIKOLOV, N ;

PETKOV, G ;

REESE, AL ;

HARANO, T ;

CHEN, SS ;

HUISMAN, THJ .

AMERICAN JOURNAL OF HEMATOLOGY, 1985, 20 (01) :7-16

[2] BETA-THALASSEMIA IN AMERICAN BLACKS - NOVEL MUTATIONS IN THE TATA BOX AND AN ACCEPTOR SPLICE SITE [J].

ANTONARAKIS, SE ;

IRKIN, SH ;

CHENG, TC ;

SCOTT, AF ;

SEXTON, JP ;

TRUSKO, SP ;

CHARACHE, S ;

KAZAZIAN, HH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (04) :1154-1158

[3]

ATWEH GF, 1987, BLOOD, V70, P147

[4]

BAUR EW, 1965, HUMANGENETIK, V1, P621

[5] ESTIMATION OF SMALL PERCENTAGES OF FOETAL HAEMOGLOBIN [J].

BETKE, K ;

MARTI, HR ;

SCHLICHT, I .

NATURE, 1959, 184 (4702) :1877-1878

[6] STRUCTURAL CHARACTERIZATION OF HEMOGLOBIN TACOMA [J].

BRIMHALL, B ;

JONES, RT ;

BAUR, EW ;

MOTULSKY, AG .

BIOCHEMISTRY, 1969, 8 (05) :2125-&

[7]

Bunn HF., 1986, HEMOGLOBIN MOL GENET

[8] UNSTABLE HEMOGLOBIN, HB TACOMA BETA-30 (B-12) ARG-]SER, DETECTED AT BIRTH BY DEMONSTRATION OF RED-CELL INCLUSIONS [J].

DEACONSMITH, RA ;

LEEPOTTER, JP .

JOURNAL OF CLINICAL PATHOLOGY, 1978, 31 (09) :883-887

[9] 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

[10]

GONZALEZREDONDO JM, IN PRESS BR J HAEMAT

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