α1-Antitrypsin deficiency • 1:: Epidemiology of α1-antitrypsin deficiency

被引:209
作者
Luisetti, M
Seersholm, N
机构
[1] Univ Pavia, Policlin San Matteo, IRCCS, Clin Malattie Apparato Resp,Lab Biochim & Genet, I-27100 Pavia, Italy
[2] Bispebjerg Hosp, Dept Internal Med 1, DK-2400 Copenhagen, Denmark
关键词
D O I
10.1136/thorax.2003.006494
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
The protein and molecular characteristics of variants of the alpha(1)-antitrypsin (AAT) gene are described, and available data on the genetic epidemiology of AAT deficiency are presented.
引用
收藏
页码:164 / 169
页数:6
相关论文
共 51 条
  • [2] [Anonymous], 1997, B WORLD HEALTH ORGAN, V75, P397
  • [3] ALPHA-1-ANTITRYPSIN (PI) PHENOTYPES IN A FINNISH POPULATION
    ARNAUD, P
    KOISTINEN, J
    WILSON, GB
    FUDENBERG, HH
    [J]. SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 1977, 37 (04) : 339 - 343
  • [4] ARNAUD P, 1979, CLIN GENET, V15, P406
  • [5] MOLECULAR EVOLUTION OF SERPINS - HOMOLOGOUS STRUCTURE OF THE HUMAN ALPHA-1-ANTICHYMOTRYPSIN AND ALPHA-1-ANTITRYPSIN GENES
    BAO, JJ
    SIFERS, RN
    KIDD, VJ
    LEDLEY, FD
    WOO, SLC
    [J]. BIOCHEMISTRY, 1987, 26 (24) : 7755 - 7759
  • [6] ALPHA1-ANTITRYPSIN PHENOTYPES IN NORTHERN SWEDEN
    BECKMAN, G
    BECKMAN, L
    NORDENSON, I
    [J]. HUMAN HEREDITY, 1980, 30 (03) : 129 - 135
  • [7] Alpha-1-antitrypsin PI phenotypes S and Z in Europe:: an analysis of the published surveys
    Blanco, I
    Fernández, E
    Bustillo, EF
    [J]. CLINICAL GENETICS, 2001, 60 (01) : 31 - 41
  • [8] BRANTLY M, 1996, ALPHA 1 ANTITRYPSIN, P45
  • [9] GUIDELINES FOR THE APPROACH TO THE PATIENT WITH SEVERE HEREDITARY ALPHA-1-ANTITRYPSIN DEFICIENCY
    BUIST, AS
    BURROWS, B
    COHEN, A
    CRYSTAL, RG
    FALLAT, RJ
    GADEK, JE
    TURINO, GM
    [J]. AMERICAN REVIEW OF RESPIRATORY DISEASE, 1989, 140 (05): : 1494 - 1497
  • [10] BYTH BC, 1994, AM J HUM GENET, V55, P126