DIAGNOSIS OF GENETIC-DISORDERS AT THE DNA LEVEL

被引:92
作者
ANTONARAKIS, SE
机构
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D O I
10.1056/NEJM198901193200305
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
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页码:153 / 163
页数:11
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共 138 条
[1]   FAMILIAL ISOLATED HYPOPARATHYROIDISM - A MOLECULAR GENETIC-ANALYSIS OF 8 FAMILIES WITH 23 AFFECTED PERSONS [J].
AHN, TG ;
ANTONARAKIS, SE ;
KRONENBERG, HM ;
IGARASHI, T ;
LEVINE, MA .
MEDICINE, 1986, 65 (02) :73-81
[2]   DNA POLYMORPHISM AND MOLECULAR PATHOLOGY OF THE HUMAN GLOBIN GENE CLUSTERS [J].
ANTONARAKIS, SE ;
KAZAZIAN, HH ;
ORKIN, SH .
HUMAN GENETICS, 1985, 69 (01) :1-14
[3]   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
[4]  
ANTONARAKIS SE, 1985, LANCET, V1, P1407
[5]   THE MOLECULAR-BASIS OF HEMOPHILIA A IN MAN [J].
ANTONARAKIS, SE ;
KAZAZIAN, HH .
TRENDS IN GENETICS, 1988, 4 (08) :233-237
[6]   HEMOPHILIA-A - DETECTION OF MOLECULAR DEFECTS AND OF CARRIERS BY DNA ANALYSIS [J].
ANTONARAKIS, SE ;
WABER, PG ;
KITTUR, SD ;
PATEL, AS ;
KAZAZIAN, HH ;
MELLIS, MA ;
COUNTS, RB ;
STAMATOYANNOPOULOS, G ;
BOWIE, EJW ;
FASS, DN ;
PITTMAN, DD ;
WOZNEY, JM ;
TOOLE, JJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (14) :842-848
[7]   IDENTIFICATION OF AN ALTERED SPLICE SITE IN ASHKENAZI TAY-SACHS DISEASE [J].
ARPAIA, E ;
DUMBRILLEROSS, A ;
MALER, T ;
NEOTE, K ;
TROPAK, M ;
TROXEL, C ;
STIRLING, JL ;
PITTS, JS ;
BAPAT, B ;
LAMHONWAH, AM ;
MAHURAN, DJ ;
SCHUSTER, SM ;
CLARKE, JTR ;
LOWDEN, JA ;
GRAVEL, RA .
NATURE, 1988, 333 (6168) :85-86
[8]   DNA LINKAGE ANALYSIS OF X-CHROMOSOME-LINKED CHRONIC GRANULOMATOUS-DISEASE [J].
BAEHNER, RL ;
KUNKEL, LM ;
MONACO, AP ;
HAINES, JL ;
CONNEALLY, PM ;
PALMER, C ;
HEEREMA, N ;
ORKIN, SH .
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].
BARKER, D ;
WRIGHT, E ;
NGUYEN, K ;
CANNON, L ;
FAIN, P ;
GOLDGAR, D ;
BISHOP, DT ;
CAREY, J ;
BATY, B ;
KIVLIN, J ;
WILLARD, H ;
WAYE, JS ;
GREIG, G ;
LEINWAND, L ;
NAKAMURA, Y ;
OCONNELL, P ;
LEPPERT, M ;
LALOUEL, JM ;
WHITE, R ;
SKOLNICK, M .
SCIENCE, 1987, 236 (4805) :1100-1102