2022 爱尔兰和英国专家共识：遗传性ATTR淀粉样变性患者的临床和遗传性评估

2022-04-13 国外遗传代谢性疾病专家组（统称） Adv Ther

遗传性转甲状腺素介导的淀粉样变性 (hATTR)依据TTR基因突变及其在个体的外显率而有所不同致使临床表现具有异质性而难以早期诊断。本文主要针对遗传性ATTR淀粉样变性患者的临床和遗传性评估提供共识建

中文标题：

英文标题：

Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK

发布机构：

国外遗传代谢性疾病专家组（统称）

发布日期：

2022-04-13

简要介绍：

遗传性转甲状腺素介导的淀粉样变性 (hATTR)依据TTR基因突变及其在个体的外显率而有所不同致使临床表现具有异质性而难以早期诊断。本文主要针对遗传性ATTR淀粉样变性患者的临床和遗传性评估提供共识建议。

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