DIAGNOSIS OF GENETIC-DISORDERS AT THE DNA LEVEL

被引:92
作者
ANTONARAKIS, SE
机构
关键词
D O I
10.1056/NEJM198901193200305
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:153 / 163
页数:11
相关论文
共 138 条
[21]   MAPPING OF MUTATION CAUSING FRIEDREICHS ATAXIA TO HUMAN CHROMOSOME-9 [J].
CHAMBERLAIN, S ;
SHAW, J ;
ROWLAND, A ;
WALLIS, J ;
SOUTH, S ;
NAKAMURA, Y ;
VONGABAIN, A ;
FARRALL, M ;
WILLIAMSON, R .
NATURE, 1988, 334 (6179) :248-250
[22]   A SENSITIVE NEW PRENATAL TEST FOR SICKLE-CELL-ANEMIA [J].
CHANG, JC ;
KAN, YW .
NEW ENGLAND JOURNAL OF MEDICINE, 1982, 307 (01) :30-32
[23]   LETHAL OSTEOGENESIS IMPERFECTA RESULTING FROM A SINGLE NUCLEOTIDE CHANGE IN ONE HUMAN PRO-ALPHA-1(I) COLLAGEN ALLELE [J].
COHN, DH ;
BYERS, PH ;
STEINMANN, B ;
GELINAS, RE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (16) :6045-6047
[24]  
COLE WG, 1986, J BIOL CHEM, V261, P5496
[25]   A POINT MUTATION IN THE A-GAMMA-GLOBIN GENE PROMOTER IN GREEK HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN [J].
COLLINS, FS ;
METHERALL, JE ;
YAMAKAWA, M ;
PAN, J ;
WEISSMAN, SM ;
FORGET, BG .
NATURE, 1985, 313 (6000) :325-326
[26]   MOLECULAR-BASIS OF HEREDITARY ELLIPTOCYTOSIS DUE TO PROTEIN-4.1 DEFICIENCY [J].
CONBOY, J ;
MOHANDAS, N ;
TCHERNIA, G ;
KAN, YW .
NEW ENGLAND JOURNAL OF MEDICINE, 1986, 315 (11) :680-685
[27]   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
[28]   AN ESTIMATE OF UNIQUE DNA-SEQUENCE HETEROZYGOSITY IN THE HUMAN GENOME [J].
COOPER, DN ;
SMITH, BA ;
COOKE, HJ ;
NIEMANN, S ;
SCHMIDTKE, J .
HUMAN GENETICS, 1985, 69 (03) :201-205
[29]   DNA RESTRICTION FRAGMENTS ASSOCIATED WITH ALPHA-1-ANTITRYPSIN INDICATE A SINGLE ORIGIN FOR DEFICIENCY ALLELE PI Z [J].
COX, DW ;
WOO, SLC ;
MANSFIELD, T .
NATURE, 1985, 316 (6023) :79-81
[30]  
DAIGER SP, 1986, LANCET, V1, P229