Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis

被引:0
|
作者
Jacobson, DR
Pan, T
Kyle, RA
Buxbaum, JN
机构
[1] VET ADM MED CTR, RES SERV, NEW YORK, NY 10010 USA
[2] MAYO CLIN & MAYO FDN, DIV HEMATOL & INTERNAL MED, ROCHESTER, MN 55905 USA
关键词
D O I
10.1002/(SICI)1098-1004(1997)9:1<83::AID-HUMU19>3.3.CO;2-J
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:83 / 85
页数:3
相关论文
共 50 条
  • [1] Late-onset transthyretin-associated cardiac amyloidosis
    Jacobson, DR
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2001, 8 : 100 - 102
  • [2] A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis
    Dupuy, O
    Blétry, O
    Blanc, AS
    Droz, D
    Viémont, M
    Delpech, M
    Grateau, G
    AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1998, 5 (04): : 285 - 287
  • [3] Transthyretin valine-94-alanine, a novel variant associated with late-onset systemic amyloidosis with cardiac involvement
    Kristen, Arnt V.
    Ehlermann, Philipp
    Helmke, Burkhard
    Hund, Ernst
    Haberkorn, Uwe
    Linke, Reinhold P.
    Katus, Hugo A.
    Winter, Pia
    Altland, Klaus
    Dengler, Thomas J.
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2007, 14 (04): : 283 - 287
  • [4] A case of late onset cardiac amyloidosis with a new transthyretin variant (lysine 92)
    Saito, F
    Nakazato, M
    Akiyama, H
    Kitahara, Y
    Date, Y
    Iwasaki, Y
    Harasawa, S
    Hisaki, R
    Hori, T
    Kinukawa, N
    Watanabe, T
    Sakamaki, T
    Yagi, H
    Hoshii, Y
    Yutani, C
    Kanmatsuse, K
    HUMAN PATHOLOGY, 2001, 32 (02) : 237 - 239
  • [5] Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans
    Jacobson, DR
    Pastore, RD
    Yaghoubian, R
    Kane, I
    Gallo, G
    Buck, FS
    Buxbaum, JN
    NEW ENGLAND JOURNAL OF MEDICINE, 1997, 336 (07): : 466 - 473
  • [6] A NEW TRANSTHYRETIN VARIANT ASSOCIATED WITH CARDIAC AMYLOIDOSIS
    ALMEIDA, MR
    HESSE, A
    STEINMETZ, A
    MAISCH, R
    ALTLAND, K
    LINKE, AP
    GAWINOWICZ, MA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 181 - 181
  • [7] SENILE CARDIAC AMYLOIDOSIS ASSOCIATED WITH HOMOZYGOSITY FOR A TRANSTHYRETIN VARIANT (ILE-122)
    NICHOLS, WC
    LIEPNIEKS, JJ
    SNYDER, EL
    BENSON, MD
    JOURNAL OF LABORATORY AND CLINICAL MEDICINE, 1991, 117 (03): : 175 - 180
  • [8] A HOMOZYGOUS TRANSTHYRETIN VARIANT ASSOCIATED WITH SENILE SYSTEMIC AMYLOIDOSIS - EVIDENCE FOR A LATE-ONSET DISEASE OF GENETIC ETIOLOGY
    JACOBSON, DR
    GOREVIC, PD
    BUXBAUM, JN
    AMERICAN JOURNAL OF HUMAN GENETICS, 1990, 47 (01) : 127 - 136
  • [9] Transthyretin variants in late-onset cardiac amyloidosis: Distinguishing familial amyloid cardiomyopathy from senile cardiac amyloidosis.
    Jacobson, DR
    Kane, I
    Gertz, MA
    Gallo, G
    Pan, T
    Tufau, P
    Buxbaum, JN
    AMYLOID AND AMYLOIDOSIS 1998, 1999, : 344 - 346
  • [10] Transthyretin serine 44, a new variant associated with early-onset neuropathic and cardiac amyloidosis.
    Lacy, MQ
    Jacobson, DR
    AMYLOID AND AMYLOIDOSIS 1998, 1999, : 327 - 329