… For the analysis of the mutation spectrum we used additional … explained by the age and
gender spectrum of our cohort, as … In summary, we present an update on the mutation spectrum …

… The authors concluded that hypercholesterolemia in almost 90% of the mutation … the
mutational spectrum and clinical phenotypes in 336 German patients with hypercholesterolemia. …

… This paper describes our experience with the SSCP method to scan for mutations in the …
We compare the spectrum of variations identified with the spectrum of mutations identified …

… In this work, we studied the mutation spectrum of FH in the 22 Arab countries. Although our
selection criteria were broad, our search strategy captured data from only eight out of the 22 …

… To determine the spectrum of gene mutations and the genotype–phenotype correlations
in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy. …

… Here we report the genetic spectrum emerging from the retrospective analysis of an Italian
population genetically screened in the last 11 years highlighting the complexity of FH genetics…

… In summary, the current study replenished the knowledge of mutation spectrum of FH in
China and further confirmed the heterogeneity of FH genetics and genotype-phenotype …

… Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations
in the genes coding for the low density lipoprotein receptor (LDLR), proprotein convertase …

Background Familial hypercholesterolemia (FH) is an autosomal dominant disease
characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of …

… In the current paper, we analyse the mutation spectrum in these children and examine
the association between the gene mutation and predicted class of LDLR gene mutation and …