Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
- Autori: Bertolini, S; Pisciotta, L; Rabacchi, C; Cefalù, A; Noto, D; Fasano, T; Signori, A; Fresa, R; Averna, M; Calandra, S
- Anno di pubblicazione: 2013
- Tipologia: Articolo in rivista (Articolo in rivista)
- OA Link: http://hdl.handle.net/10447/74486
Abstract
To determine the spectrum of gene mutations and the genotype-phenotype correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy.