Case report and literature review of transthyretin amyloidosis with p.Ser43Asn mutation presenting in China

BackgroundFamilial transthyretin amyloidosis (ATTR) is a rare hereditary disorder marked by abnormal protein fibril deposits that impair multiple organ functions. Although over 130 mutations have been identified, the p.Ser43Asn variant, which has been associated with amyloidosis involving thyroxine-...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:Frontiers in Cardiovascular Medicine
المؤلفون الرئيسيون: Kebinuer Abulikemu, Lei Hong, Qinghua Zhong
التنسيق: مقال
اللغة:الإنجليزية
منشور في: Frontiers Media S.A. 2025-09-01
الموضوعات:
p.Ser43Asn mutation
familial transthyretin amyloidosis
cardiac amyloidosis
amaurosis fugax
genetic testing
الوصول للمادة أونلاين:https://www.frontiersin.org/articles/10.3389/fcvm.2025.1625485/full

الانترنت

https://www.frontiersin.org/articles/10.3389/fcvm.2025.1625485/full

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