DIAGNOSIS OF GENETIC-DISORDERS AT THE DNA LEVEL

[21] MAPPING OF MUTATION CAUSING FRIEDREICHS ATAXIA TO HUMAN CHROMOSOME-9 [J]. NATURE, 1988, 334 (6179) : 248 - 250

[22] A SENSITIVE NEW PRENATAL TEST FOR SICKLE-CELL-ANEMIA [J]. 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]. 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]. NATURE, 1985, 313 (6000) : 325 - 326

[26] MOLECULAR-BASIS OF HEREDITARY ELLIPTOCYTOSIS DUE TO PROTEIN-4.1 DEFICIENCY [J]. 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]. 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]. 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]. NATURE, 1985, 316 (6023) : 79 - 81

[30] DAIGER SP, 1986, LANCET, V1, P229

[21] MAPPING OF MUTATION CAUSING FRIEDREICHS ATAXIA TO HUMAN CHROMOSOME-9 [J]. NATURE, 1988, 334 (6179) : 248 - 250

[22] A SENSITIVE NEW PRENATAL TEST FOR SICKLE-CELL-ANEMIA [J]. 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]. 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]. NATURE, 1985, 313 (6000) : 325 - 326

[26] MOLECULAR-BASIS OF HEREDITARY ELLIPTOCYTOSIS DUE TO PROTEIN-4.1 DEFICIENCY [J]. 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]. 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]. 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]. NATURE, 1985, 316 (6023) : 79 - 81

[30] DAIGER SP, 1986, LANCET, V1, P229