TRANSTHYRETIN LEU-68 IN A FORM OF CARDIAC AMYLOIDOSIS

被引：38

作者：

ALMEIDA, MR

HESSE, A

STEINMETZ, A

MAISCH, B

ALTLAND, K

LINKE, RP

GAWINOWICZ, MA

SARAIVA, MJM

机构：

[1] UNIV PORTO, INST CIENCIAS BIOMED, P-4300 OPORTO, PORTUGAL

[2] UNIV MARBURG, ZENTRUM INNERE MED, W-3550 MARBURG, GERMANY

[3] UNIV GIESSEN, INST HUMAN GENET, W-6300 GIESSEN, GERMANY

[4] MAX PLANCK INST BIOCHEM, W-8033 MARTINSRIED, GERMANY

[5] COLUMBIA UNIV, DEPT MED, NEW YORK, NY 10027 USA

来源：

BASIC RESEARCH IN CARDIOLOGY | 1991年 / 86卷 / 06期

关键词：

AMYLOIDOSIS; CARDIAC AMYLOIDOSIS; CARDIOMYOPATHY; TRANSTHYRETIN VARIANT;

D O I：

10.1007/BF02190707

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A form of transthyretin (TTR)-related cardiac amyloidosis was previously described in a German patient. Electrophoretic analysis of plasma TTR showed the presence of an electrically neutral variant. We have now characterized the variant transthyretin by comparative peptide mapping, aminoacid and DNA sequencing procedures. A new mutation in TTR with a substitution of leucine for isoleucine at position 68 of the monomer is described.

引用

页码：567 / 571

页数：5

共 13 条

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