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Amyloid
The Journal of Protein Folding Disorders
Volume 28, 2021 - Issue 2
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Letters to the Editor

DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis: a comment

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Pages 134-135 | Received 01 Jul 2020, Accepted 26 Sep 2020, Published online: 12 Oct 2020

References

  • Akinboboye O, Shah K, Warner AL, et al. DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis [published online ahead of print, 2020 May 26]. Amyloid. 2020;1–8.doi:10.1080/13506129.2020.1764928.
  • Buxbaum J, Ruberg F. Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans. Genet Med. 2017;19(7):733–742.
  • Lahuerta C, Aibar MA, Gracia A, et al. Estimating the prevalence of allelic variants in the transthyretin gene by analysing large scale sequencing data. Eur J Hum Genet. 2019;27(5):783–791.
  • Gentile L, Di Bella G, Minutoli F, et al. Description of a large cohort of caucasian patients with V122I ATTRv amyloidosis: neurological and cardiological features. J Peripher Nerv Syst. 2020;25(3):273–278.
  • López-Sainz Á, Hernandez-Hernandez A, Gonzalez-Lopez E, et al. Clinical profile and outcome of cardiac amyloidosis in a Spanish referral center [published online ahead of print, 2020 Apr 18]. Rev Esp Cardiol (Engl Ed). 2020;S1885-5857(20)30098-0. English, Spanish. doi:10.1016/j.rec.2019.12.020.

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