IDENTIFICATION OF A NEW MISSENSE POINT MUTATION IN EXON-4 OF THE CU/ZN SUPEROXIDE-DISMUTASE (SOD-1) GENE IN A FAMILY WITH AMYOTROPHIC-LATERAL-SCLEROSIS

被引:75
作者
ELSHAFEY, A
LANYON, WG
CONNOR, JM
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关键词
D O I
10.1093/hmg/3.2.363
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
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页码:363 / 364
页数:2
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共 7 条
  • [1] AMYOTROPHIC-LATERAL-SCLEROSIS AND STRUCTURAL DEFECTS IN CU,ZN SUPEROXIDE-DISMUTASE
    DENG, HX
    HENTATI, A
    TAINER, JA
    IQBAL, Z
    CAYABYAB, A
    HUNG, WY
    GETZOFF, ED
    HU, P
    HERZFELDT, B
    ROOS, RP
    WARNER, C
    DENG, G
    SORIANO, E
    SMYTH, C
    PARGE, HE
    AHMED, A
    ROSES, AD
    HALLEWELL, RA
    PERICAKVANCE, MA
    SIDDIQUE, T
    [J]. SCIENCE, 1993, 261 (5124) : 1047 - 1051
  • [2] ISOLATION AND SEQUENCE OF COMPLEMENTARY-DNA ENCODING HUMAN EXTRACELLULAR SUPEROXIDE-DISMUTASE
    HJALMARSSON, K
    MARKLUND, SL
    ENGSTROM, A
    EDLUND, T
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (18) : 6340 - 6344
  • [3] MOTOR-NEURON DISEASE IN THE LOTHIAN REGION OF SCOTLAND 1961-81
    HOLLOWAY, SM
    MITCHELL, JD
    [J]. JOURNAL OF EPIDEMIOLOGY AND COMMUNITY HEALTH, 1986, 40 (04) : 344 - 350
  • [4] FAMILIAL MOTOR NEURON DISEASE - EVIDENCE FOR AT LEAST 3 DIFFERENT TYPES
    HORTON, WA
    ELDRIDGE, R
    BRODY, JA
    [J]. NEUROLOGY, 1976, 26 (05) : 460 - 465
  • [5] MGONE CS, 1992, HUM GENET, V90, P12
  • [6] NORRIS FH, 1992, HDB AMYOTROPHIC LATE, P3
  • [7] MUTATIONS IN CU/ZN SUPEROXIDE-DISMUTASE GENE ARE ASSOCIATED WITH FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS
    ROSEN, DR
    SIDDIQUE, T
    PATTERSON, D
    FIGLEWICZ, DA
    SAPP, P
    HENTATI, A
    DONALDSON, D
    GOTO, J
    OREGAN, JP
    DENG, HX
    RAHMANI, Z
    KRIZUS, A
    MCKENNAYASEK, D
    CAYABYAB, A
    GASTON, SM
    BERGER, R
    TANZI, RE
    HALPERIN, JJ
    HERZFELDT, B
    VANDENBERGH, R
    HUNG, WY
    BIRD, T
    DENG, G
    MULDER, DW
    SMYTH, C
    LAING, NG
    SORIANO, E
    PERICAKVANCE, MA
    HAINES, J
    ROULEAU, GA
    GUSELLA, JS
    HORVITZ, HR
    BROWN, RH
    [J]. NATURE, 1993, 362 (6415) : 59 - 62