Article
DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2020
Akinboboye Ola, Shah Keyur, Warner Alberta L, Damy Thibaud, Taylor Herman A, Gollob Jared, Powell Christine, Karsten Verena, Vest John, Maurer Mathew S
Abstract excerpt
BACKGROUND: Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a multisystem disease that presents with polyneuropathy and/or cardiomyopathy. METHODS: DISCOVERY, a multicenter screening study, enrolled patients with clinically suspected cardiac amyloidosis to determine the frequency of transthyretin (TTR) mutations and assess disease characteristics. RESULTS: Of 1007 patients, the majority were...
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