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Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis

Hereditary transthyretin (TTR) amyloidosis (hATTR) is a rare life-threatening disorder caused by amyloidogenic coding mutations located in TTR gene. To understand the high phenotypic variability observed among carriers of TTR disease-causing mutations, we conducted an epigenome-wide association stud...

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Detalles Bibliográficos
Autores principales: De Lillo, Antonella, Pathak, Gita A., De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Sabatelli, Mario, Perfetto, Federico, Frusconi, Sabrina, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672937/
https://www.ncbi.nlm.nih.gov/pubmed/33203445
http://dx.doi.org/10.1186/s13148-020-00967-6