A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping

被引:5
作者
Coulter-Mackie, MB [1 ]
机构
[1] Univ British Columbia, Dept Pediat, Vancouver, BC V6T 1W5, Canada
关键词
D O I
10.1023/A:1005563004678
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:682 / 683
页数:2
相关论文
共 3 条
  • [1] The regulation of splice-site selection, and its role in human disease
    Cooper, TA
    Mattox, W
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (02) : 259 - 266
  • [2] Gordon BA, 1998, CLIN INVEST MED, V21, P114
  • [3] 3-DIMENSIONAL STRUCTURE OF HUMAN LYSOSOMAL ASPARTYLGLUCOSAMINIDASE
    OINONEN, C
    TIKKANEN, R
    ROUVINEN, J
    PELTONEN, L
    [J]. NATURE STRUCTURAL BIOLOGY, 1995, 2 (12): : 1102 - 1108