DIAGNOSIS OF GENETIC-DISORDERS AT THE DNA LEVEL

[1] FAMILIAL ISOLATED HYPOPARATHYROIDISM - A MOLECULAR GENETIC-ANALYSIS OF 8 FAMILIES WITH 23 AFFECTED PERSONS [J]. MEDICINE, 1986, 65 (02) : 73 - 81

[2] DNA POLYMORPHISM AND MOLECULAR PATHOLOGY OF THE HUMAN GLOBIN GENE CLUSTERS [J]. HUMAN GENETICS, 1985, 69 (01) : 1 - 14

[3] NONRANDOM ASSOCIATION OF POLYMORPHIC RESTRICTION SITES IN THE BETA-GLOBIN GENE-CLUSTER [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (01): : 137 - 141

[4] ANTONARAKIS SE, 1985, LANCET, V1, P1407

[5] THE MOLECULAR-BASIS OF HEMOPHILIA A IN MAN [J]. TRENDS IN GENETICS, 1988, 4 (08) : 233 - 237

[6] HEMOPHILIA-A - DETECTION OF MOLECULAR DEFECTS AND OF CARRIERS BY DNA ANALYSIS [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (14) : 842 - 848

[7] IDENTIFICATION OF AN ALTERED SPLICE SITE IN ASHKENAZI TAY-SACHS DISEASE [J]. NATURE, 1988, 333 (6168) : 85 - 86

[8] DNA LINKAGE ANALYSIS OF X-CHROMOSOME-LINKED CHRONIC GRANULOMATOUS-DISEASE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (10) : 3398 - 3401

[9] BAKKER E, 1985, LANCET, V1, P655

[10] GENE FOR VON RECKLINGHAUSEN NEUROFIBROMATOSIS IS IN THE PERICENTROMERIC REGION OF CHROMOSOME-17 [J]. SCIENCE, 1987, 236 (4805) : 1100 - 1102

[1] FAMILIAL ISOLATED HYPOPARATHYROIDISM - A MOLECULAR GENETIC-ANALYSIS OF 8 FAMILIES WITH 23 AFFECTED PERSONS [J]. MEDICINE, 1986, 65 (02) : 73 - 81

[2] DNA POLYMORPHISM AND MOLECULAR PATHOLOGY OF THE HUMAN GLOBIN GENE CLUSTERS [J]. HUMAN GENETICS, 1985, 69 (01) : 1 - 14

[3] NONRANDOM ASSOCIATION OF POLYMORPHIC RESTRICTION SITES IN THE BETA-GLOBIN GENE-CLUSTER [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (01): : 137 - 141

[4] ANTONARAKIS SE, 1985, LANCET, V1, P1407

[5] THE MOLECULAR-BASIS OF HEMOPHILIA A IN MAN [J]. TRENDS IN GENETICS, 1988, 4 (08) : 233 - 237

[6] HEMOPHILIA-A - DETECTION OF MOLECULAR DEFECTS AND OF CARRIERS BY DNA ANALYSIS [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (14) : 842 - 848

[7] IDENTIFICATION OF AN ALTERED SPLICE SITE IN ASHKENAZI TAY-SACHS DISEASE [J]. NATURE, 1988, 333 (6168) : 85 - 86

[8] DNA LINKAGE ANALYSIS OF X-CHROMOSOME-LINKED CHRONIC GRANULOMATOUS-DISEASE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (10) : 3398 - 3401

[9] BAKKER E, 1985, LANCET, V1, P655

[10] GENE FOR VON RECKLINGHAUSEN NEUROFIBROMATOSIS IS IN THE PERICENTROMERIC REGION OF CHROMOSOME-17 [J]. SCIENCE, 1987, 236 (4805) : 1100 - 1102