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葡萄牙型家族淀粉样多发性神经病是由一种转甲状腺素蛋白(ｔｒａｎｓｔｈｒｅｔｉｎ,ＴＴＲ)变异体(30位Ｖａｌ→Ｍｅｔ,简称ＴＴＲｍｅｔ30)引起的遗传性淀粉样变性。ＴＴＲ主要由肝脏分泌,并在血液中循环。所有ＴＴＲｍｅｔ30携带者的血液中均含有大量的这种变异蛋白。?..
Portuguese family history of amyloid polyneuropathy is a genetic amyloidosis caused by a transthretin (TTR) variant (30 Val → Met, referred to as TTRmet30). TTR is mainly secreted by the liver and circulates in the blood. All TTRmet30 carriers contain a large amount of this variant protein in their blood. ? ..