A NOVEL DELTA(0) THALASSEMIA MUTATION - TGG-]TAG (TRP-]STOP) AT CODON-37

被引：4

作者：

GASPERINI, D

PERSEU, L

COSSU, P

PODDA, R

CAO, A

GALANELLO, R

机构：

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

[2] CNR,IST RIC TALASSEMIA & ANEMIE MEDITERRANEE,CAGLIARI,ITALY

来源：

HUMAN MUTATION | 1994年 / 3卷 / 01期

关键词：

D O I：

10.1002/humu.1380030114

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：71 / 72

页数：2

共 10 条

[1] QUANTITATION OF HB A2 WITH DE-52 MICROCHROMATOGRAPHY IN WHOLE-BLOOD AS SCREENING-TEST FOR BETA-THALASSEMIA HETEROZYGOTES [J].

GALANELLO, R ;

MELIS, MA ;

MURONI, P ;

CAO, A .

ACTA HAEMATOLOGICA, 1977, 57 (01) :32-36

[2]

GALANELLO R, 1990, BLOOD, V75, P1747

[3] 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

[4] A NOVEL DELTA-DEGREES-THALASSEMIA ARISING FROM A FRAMESHIFT INSERTION, DETECTED BY DIRECT SEQUENCING OF ENZYMATICALLY AMPLIFIED DNA [J].

LOSEKOOT, M ;

FODDE, R ;

GIORDANO, PC ;

BERNINI, LF .

HUMAN GENETICS, 1989, 83 (01) :75-78

[5] AN EVALUATION OF THE DIAMAT HPLC ANALYZER FOR SIMULTANEOUS DETERMINATION OF HEMOGLOBIN A2 AND HEMOGLOBIN-F [J].

MOSCA, A ;

CARPINELLI, A ;

MAJAVACCA, R ;

CANTURAJNOLDI, A ;

GARATTI, M ;

PALEARI, R ;

FERRARI, M ;

AGAPE, V ;

MACCIONI, L ;

PISANO, S ;

GALANELLO, R .

JOURNAL OF AUTOMATIC CHEMISTRY, 1989, 11 (06) :273-279

[6]

NAKAMURA T, 1987, BLOOD, V70, P809

[7] A NOVEL DELTA-DEGREES MUTATION IN CIS WITH HB KNOSSOS - A STUDY OF DIFFERENT GENETIC INTERACTIONS IN 3 EGYPTIAN FAMILIES [J].

OLDS, RJ ;

SURA, T ;

JACKSON, B ;

WONKE, B ;

HOFFBRAND, AV ;

THEIN, SL .

BRITISH JOURNAL OF HAEMATOLOGY, 1991, 78 (03) :430-436

[8] PRIMER-DIRECTED ENZYMATIC AMPLIFICATION OF DNA WITH A THERMOSTABLE DNA-POLYMERASE [J].

SAIKI, RK ;

GELFAND, DH ;

STOFFEL, S ;

SCHARF, SJ ;

HIGUCHI, R ;

HORN, GT ;

MULLIS, KB ;

ERLICH, HA .

SCIENCE, 1988, 239 (4839) :487-491

[9] DNA SEQUENCING WITH CHAIN-TERMINATING INHIBITORS [J].

SANGER, F ;

NICKLEN, S ;

COULSON, AR .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (12) :5463-5467

[10]

TRIFILLIS P, 1991, BLOOD, V78, P3298

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