THE ARYLSULFATASE-A GENE AND MOLECULAR-GENETICS OF METACHROMATIC LEUKODYSTROPHY

被引:16
作者
BARTH, ML [1 ]
FENSOM, A [1 ]
HARRIS, A [1 ]
机构
[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,OXFORD OX3 9DU,ENGLAND
关键词
D O I
10.1136/jmg.31.9.663
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:663 / 666
页数:4
相关论文
共 45 条
  • [11] LYSOSOMAL ARYLSULFATASE DEFICIENCIES IN HUMANS - CHROMOSOME ASSIGNMENTS FOR ARYLSULFATASE-A AND ARYLSULFATASE-B
    DELUCA, C
    BROWN, JA
    SHOWS, TB
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (04) : 1957 - 1961
  • [12] DUBOIS G, 1975, NEW ENGL J MED, V293, P302
  • [13] FENSOM AH, 1988, CLIN GENET, V34, P122
  • [14] FLUHARTY AL, 1991, AM J HUM GENET, V49, P1340
  • [15] THE PRECURSOR OF SULFATIDE ACTIVATOR PROTEIN IS PROCESSED TO 3 DIFFERENT PROTEINS
    FURST, W
    MACHLEIDT, W
    SANDHOFF, K
    [J]. BIOLOGICAL CHEMISTRY HOPPE-SEYLER, 1988, 369 (05): : 317 - 328
  • [16] GIESELMANN V, 1991, AM J HUM GENET, V49, P407
  • [17] ARYLSULFATASE-A PSEUDODEFICIENCY - LOSS OF A POLYADENYLYLATION SIGNAL AND N-GLYCOSYLATION SITE
    GIESELMANN, V
    POLTEN, A
    KREYSING, J
    VONFIGURA, K
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (23) : 9436 - 9440
  • [18] INCIDENCE AND GENETICS OF METACHROMATIC LEUCODYSTROPHY IN NORTHERN SWEDEN
    GUSTAVSON, KH
    HAGBERG, B
    [J]. ACTA PAEDIATRICA SCANDINAVICA, 1971, 60 (05): : 585 - +
  • [19] GUSTAVSON KH, 1986, CLIN GENET, V29, P337
  • [20] AN ARYLSULFATASE-A (ARSA) MISSENSE MUTATION (T(274)M) CAUSING LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY
    HARVEY, JS
    NELSON, PV
    CAREY, WF
    ROBERTSON, EF
    MORRIS, CP
    [J]. HUMAN MUTATION, 1993, 2 (04) : 261 - 267