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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: 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: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5558178/
https://ncbi.nlm.nih.gov/pubmed/28635949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.95
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars