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Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis

Background: The Val30Met (V30M) and Val122Ile (V122I) transthyretin (TTR) mutations often beget hereditary amyloid transthyretin amyloidosis (hATTR). Since symptoms are progressively debilitating and potentially fatal if untreated, low survival rates result from late diagnoses of hATTR patients. Thi...

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Asıl Yazarlar: Sameer U. Kini, Ha My Thi Vy, Madhav Subramanian, Parasuram M. Krishnamoorthy, Son Q. Duong, Ghislain Rocheleau, Jagat Narula, Ron Do, Girish N. Nadkarni
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2025-06-01
Seri Bilgileri:International Journal of Cardiology: Heart & Vasculature
Konular:
Heart failure
Symptom onset
Phenome-Wide Association Study (PheWAS)
Echocardiogram
Inflammatory markers
African American
Online Erişim:http://www.sciencedirect.com/science/article/pii/S2352906725000661
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