Article
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
Atherosclerosis - 1 Apr 2013
Bertolini Stefano, Pisciotta Livia, Rabacchi Claudio, Cefalù Angelo B, Noto Davide, Fasano Tommaso, Signori Alessio, Fresa Raffaele, Averna Maurizio, Calandra Sebastiano
Abstract excerpt
OBJECTIVE: To determine the spectrum of gene mutations and the genotype-phenotype correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy. METHODS: The resequencing of LDLR, PCSK9 genes and a selected region of APOB gene were conducted in 1018 index subjects clinically heterozygous ADH and in 52 patients clinically homozygous ADH. The analysis was also extended to 1008...
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