MUTATION ANALYSIS OF BETA-THALASSEMIA GENES IN A GERMAN FAMILY REVEALS A RARE TRANSVERSION IN THE 1ST INTRON

被引：7

作者：

EIGEL, A ^{[1
]}

SCHNEE, J ^{[1
]}

OEHME, R ^{[1
]}

HORST, J ^{[1
]}

机构：

[1] UNIV MUNSTER,INST HUMANGENET,VESALIUSWEG 12-14,D-4400 MUNSTER,FED REP GER

来源：

HUMAN GENETICS | 1989年 / 81卷 / 04期

关键词：

D O I：

10.1007/BF00283694

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：371 / 372

页数：2

共 15 条

[1] BETA-THALASSEMIA MUTATIONS IN THE TURKISH POPULATION [J].

AKAR, N ;

CAVDAR, AO ;

DESSI, E ;

LOI, A ;

PIRASTU, M ;

CAO, A .

JOURNAL OF MEDICAL GENETICS, 1987, 24 (06) :378-379

[2] NONRANDOM ASSOCIATION OF POLYMORPHIC RESTRICTION SITES IN THE BETA-GLOBIN GENE-CLUSTER [J].

ANTONARAKIS, SE ;

BOEHM, CD ;

GIARDINA, PJV ;

KAZAZIAN, HH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (01) :137-141

[3]

ATWEH GF, 1987, BLOOD, V70, P147

[4] 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

[5]

DIAZCHICO JC, 1988, BLOOD, V71, P248

[6] THALASSAEMIA MAJOR IN DEUTSCHLAND [J].

FLATZ, G ;

HAUKE, H ;

KLEIHAUER, E .

KLINISCHE WOCHENSCHRIFT, 1964, 42 (17) :850-&

[7]

GRASER E, 1941, Z KINDERHEILKD, V62, P698

[8]

HORST J, 1986, BLOOD, V68, P1175

[9] DNA RESTRICTION MAPPING IDENTIFIES THE CHROMOSOME CARRYING THE MUTANT HB PRESBYTERIAN BETA-GLOBIN GENE [J].

HORST, J ;

OEHME, R ;

KLEIHAUER, E ;

KOHNE, E .

HUMAN GENETICS, 1983, 64 (03) :263-266

[10] QUANTIFICATION OF THE CLOSE ASSOCIATION BETWEEN DNA HAPLOTYPES AND SPECIFIC BETA-THALASSEMIA MUTATIONS IN MEDITERRANEANS [J].

KAZAZIAN, HH ;

ORKIN, SH ;

MARKHAM, AF ;

CHAPMAN, CR ;

YOUSSOUFIAN, H ;

WABER, PG .

NATURE, 1984, 310 (5973) :152-154

← 1 2 →