ATTRV30M 淀粉样变性家族的异质性:葡萄牙历史和纵向病例研究对遗传咨询的影响

Maria Pedroto, Teresa Coelho, Joana Fernandes, Alexandra Oliveira, Alípio Jorge, João Mendes-Moreira
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摘要

遗传性转甲状腺素淀粉样变性(ATTRv amyloidosis)是一种遗传性疾病,对家族史的研究具有重要意义。本研究评估了发病年龄(AOO)的变化及其他因素对遗传性转甲状腺素淀粉样变性的影响。
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Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counselling
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is an inherited disease, where the study of family history holds importance. This study evaluates the changes of age-of-onset (AOO) and othe...
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