转甲状腺素蛋白亮氨酸68与心脏淀粉样变性有关。
Transthyretin Leu 68 in a form of cardiac amyloidosis.
作者信息
Almeida M R, Hesse A, Steinmetz A, Maisch B, Altland K, Linke R P, Gawinowicz M A, Saraiva M J
机构信息
Centro de Estudos de Paramiloidose, Universidade do Porto, Portugal.
出版信息
Basic Res Cardiol. 1991 Nov-Dec;86(6):567-71. doi: 10.1007/BF02190707.
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.
先前在一名德国患者中描述了一种与转甲状腺素蛋白（TTR）相关的心脏淀粉样变性。血浆TTR的电泳分析显示存在一种电中性变体。我们现在通过比较肽图谱、氨基酸和DNA测序程序对该变体转甲状腺素蛋白进行了表征。描述了TTR中的一种新突变，即单体第68位的异亮氨酸被亮氨酸取代。
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