Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis

Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlat...

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Veröffentlicht in:	European journal of human genetics : EJHG 2017-09, Vol.25 (9), p.1055-1060
Hauptverfasser:	Iorio, Andrea, De Lillo, Antonella, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Sabatelli, Mario, Pradotto, Luca, Mauro, Alessandro, Mazzeo, Anna, Stancanelli, Claudia, Perfetto, Federico, Frusconi, Sabrina, My, Filomena, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyloidogenesis Amyloidosis Amyloidosis - diagnosis Amyloidosis - genetics Autonomic nervous system Data processing Female Gene expression Genotype Heterozygote Humans Male Mutation Non-coding RNA Phenotype Prealbumin - genetics Prealbumin - metabolism Studies
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