DENOVO DNA MICRODELETION IN A GIRL WITH TURNER SYNDROME AND DUCHENNE MUSCULAR-DYSTROPHY

被引:46
作者
CHELLY, J
MARLHENS, F
LEMAREC, B
JEANPIERRE, M
LAMBERT, M
HAMARD, G
DUTRILLAUX, B
KAPLAN, JC
机构
[1] CHU COCHIN PT ROYAL, INST PATHOL MOLEC,INSERM,U129, 24 RUE FAUBOURG ST JACQUES, F-75014 PARIS, FRANCE
[2] INST CURIE, CNRS, UNITE 620, F-75231 PARIS 05, FRANCE
[3] CHU RENNES, HOP PONTCHAILLOU, F-35000 RENNES, FRANCE
关键词
D O I
10.1007/BF00282093
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:193 / 196
页数:4
相关论文
共 27 条
  • [1] ALDRIDGE J, 1984, AM J HUM GENET, V36, P546
  • [3] BAKKER E, 1985, LANCET, V1, P655
  • [4] DUTRILLAUX B, 1971, CR ACAD SCI D NAT, V272, P2638
  • [5] FERRIER P, 1965, J Med Genet, V2, P38, DOI 10.1136/jmg.2.1.38
  • [6] FRANCKE U, 1985, AM J HUM GENET, V37, P250
  • [7] The rate of spontaneous mutation of a human gene
    Haldane, JBS
    [J]. JOURNAL OF GENETICS, 1935, 31 (03) : 317 - 326
  • [8] ISOLATION OF PROBES DETECTING RESTRICTION FRAGMENT LENGTH POLYMORPHISMS FROM X-CHROMOSOME-SPECIFIC LIBRARIES - POTENTIAL USE FOR DIAGNOSIS OF DUCHENNE MUSCULAR-DYSTROPHY
    HOFKER, MH
    WAPENAAR, MC
    GOOR, N
    BAKKER, E
    VANOMMEN, GJB
    PEARSON, PL
    [J]. HUMAN GENETICS, 1985, 70 (02) : 148 - 156
  • [9] ANALYSIS OF DELETIONS IN DNA FROM PATIENTS WITH BECKER AND DUCHENNE MUSCULAR-DYSTROPHY
    KUNKEL, LM
    HEJTMANCIK, JF
    CASKEY, CT
    SPEER, A
    MONACO, AP
    MIDDLESWORTH, W
    COLLETTI, CA
    BERTELSON, C
    MULLER, U
    BRESAN, M
    SHAPIRO, F
    TANTRAVAHI, U
    SPEER, J
    LATT, SA
    BARTLETT, R
    PERICAK-VANCE, MA
    ROSES, AD
    THOMPSON, WV
    RAY, PN
    WORTON, RG
    FISCHBECK, KH
    GALLANO, P
    COULON, M
    DUROS, C
    BOUE, J
    JUNIEN, C
    CHELLY, J
    HAMARD, G
    JEANPIERRE, M
    LAMBERT, M
    KAPLAN, JC
    EMERY, A
    DORKINS, H
    McGLADE, S
    DAVIES, KE
    BOEHM, C
    ARVEILER, B
    LEMAIRE, C
    MORGAN, GJ
    DENTON, MJ
    AMOS, J
    BOBROW, M
    BENHAM, F
    BOSWINKEL, E
    COLE, C
    DUBOWITZ, V
    HART, K
    HODGSON, S
    JOHNSON, L
    WALKER, A
    [J]. NATURE, 1986, 322 (6074) : 73 - 77
  • [10] SPECIFIC CLONING OF DNA FRAGMENTS ABSENT FROM THE DNA OF A MALE PATIENT WITH AN X-CHROMOSOME DELETION
    KUNKEL, LM
    MONACO, AP
    MIDDLESWORTH, W
    OCHS, HD
    LATT, SA
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (14) : 4778 - 4782