Article
Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.
BMC research notes - 2 Oct 2023
Moreno-Gázquez Inmaculada, Pérez-Palacios Raquel, Abengochea-Quílez Lucia, Lahuerta Pueyo Carmen, Roteta Unceta Barrenechea Ana, Andrés Gracia Alejandro, Aibar Arregui Miguel Angel, Menao Guillén Sebastián
Abstract excerpt
OBJECTIVE: Wild-type transthyretin (ATTRwt) amyloidosis is caused by the misfolding and deposition of the transthyretin protein (TTR) in the absence of mutations in the TTR gene. Studies regarding the variant form of ATTR amyloidosis (ATTRv) suggest that the presence of single-nucleotide polymorphisms (SNP) in genes other than the TTR, may influence the development of the disease. However, other genetic factors...
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