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
来源：
JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 09期
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
  • [1] ALZHEIMER A, 1910, NERVENGEWEBE NISSL A, V3, P493
  • [2] AUSTIN JH, 1959, P SOC EXP BIOL MED, V100, P361
  • [3] A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN 3 HUMAN DISORDERS OF GLYCOLIPID METABOLISM
    AUSTIN, JH
    BALASUBRAMANIAN, AS
    BACHHAWAT, BK
    BASU, DK
    SARASWATHI, S
    PATTABIRAMAN, TN
    [J]. JOURNAL OF NEUROCHEMISTRY, 1963, 10 (11) : 805 - &
  • [4] BARTH ML, 1993, HUM GENET, V91, P73
  • [5] FREQUENCY OF ARYLSULFATASE-A PSEUDODEFICIENCY ASSOCIATED MUTATIONS IN A HEALTHY POPULATION
    BARTH, ML
    WARD, C
    HARRIS, A
    SAAD, A
    FENSOM, A
    [J]. JOURNAL OF MEDICAL GENETICS, 1994, 31 (09) : 667 - 671
  • [6] MISSENSE MUTATIONS IN THE ARYLSULFATASE-A GENES OF METACHROMATIC LEUKODYSTROPHY PATIENTS
    BARTH, ML
    FENSOM, A
    HARRIS, A
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 2117 - 2121
  • [7] BENSON PF, 1985, GENETIC BIOCH DISORD, P114
  • [8] SIMULTANEOUS DETECTION OF THE 2 MOST FREQUENT METACHROMATIC LEUKODYSTROPHY MUTATIONS
    BERGER, J
    MOLZER, B
    GIESELMANN, V
    BERNHEIMER, H
    [J]. HUMAN GENETICS, 1993, 92 (04) : 421 - 423
  • [9] AN 11-BP DELETION IN THE ARYLSULFATASE-A GENE OF A PATIENT WITH LATE INFANTILE METACHROMATIC LEUKODYSTROPHY
    BOHNE, W
    VONFIGURA, K
    GIESELMANN, V
    [J]. HUMAN GENETICS, 1991, 87 (02) : 155 - 158
  • [10] EXPRESSION OF HUMAN ARYLSULFATASE-A IN MAN-HAMSTER SOMATIC-CELL HYBRIDS
    BRUNS, GAP
    MINTZ, BJ
    LEARY, AC
    REGINA, VM
    GERALD, PS
    [J]. CYTOGENETICS AND CELL GENETICS, 1978, 22 (1-6): : 182 - 185
12345