Tabulation of transthyretin (TTR) variants as of 1/1/2000

被引:106
作者
Connors, LH
Richardson, AM
Théberge, R
Costello, CE
机构
[1] Boston Univ, Sch Med, Dept Biochem, Boston, MA 02118 USA
[2] Boston Univ, Sch Med, Amyloid Treatment & Res Program, Boston, MA 02118 USA
来源
AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION | 2000年 / 7卷 / 01期
关键词
transthyretin; variant; amyloidosis; familial amyloidotic polyneuropathy; mass spectrometry;
D O I
10.3109/13506120009146826
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:54 / 69
页数:16
相关论文
共 180 条
  • [31] Familial amyloidosis in one Chinese family: Clinical, immunological, and molecular genetic analysis
    Chou, CT
    Lee, CC
    Chang, DM
    Buxbaum, JN
    Jacobson, DR
    [J]. JOURNAL OF INTERNAL MEDICINE, 1997, 241 (04) : 327 - 331
  • [32] Familial amyloid polyneuropathy: New developments in genetics and treatment
    Coelho, T
    [J]. CURRENT OPINION IN NEUROLOGY, 1996, 9 (05) : 355 - 359
  • [33] A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing
    Connors, LH
    Ericsson, T
    Skare, J
    Jones, LA
    Lewis, WD
    Skinner, M
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1998, 1407 (03): : 185 - 192
  • [34] CONNORS LH, 1999, 4 INT S FAP OTH TTR
  • [35] CONNORS LH, 1999, INT J EXP CLIN INVES, V6, P114
  • [36] IMMUNOASSAY FOR TRANSTHYRETIN VARIANTS ASSOCIATED WITH AMYLOID NEUROPATHY
    COSTA, PMP
    TEIXEIRA, A
    SARAIVA, MJM
    COSTA, PP
    [J]. SCANDINAVIAN JOURNAL OF IMMUNOLOGY, 1993, 38 (02) : 177 - 182
  • [37] THYROXINE-BINDING BY HUMAN TRANSTHYRETIN VARIANTS - MUTATIONS AT POSITION-119, BUT NOT POSITION-54, INCREASE THYROXINE-BINDING AFFINITY
    CURTIS, AJ
    SCRIMSHAW, BJ
    TOPLISS, DJ
    STOCKIGT, JR
    GEORGE, PM
    BARLOW, JW
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1994, 78 (02) : 459 - 462
  • [38] Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues
    Date, Y
    Nakazato, M
    Kangawa, K
    Shirieda, K
    Fujimoto, T
    Matsukura, S
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1997, 150 (02) : 143 - 148
  • [39] De Lucia R, 1993, CLIN NEUROPATHOL, V12, pS44
  • [40] Dray J M, 1997, Rev Prat, V47, P1798