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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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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 |
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