1. Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred 
Rossella Spina, PhD, Davide Noto, MD, PhD, Carlo M. Barbagallo, MD, PhD, Roberto Monastero, MD, PhD, Valeria Ingrassia, PhD, Vincenza Valenti, PhD, Roberta Baschi, MD, Antonina Pipitone, DBiotech, Antonina Giammanco, MD, Maria P. La Spada, DBiotech, Gabriella Misiano, PhD, Chiara Scrimali, Bscie, Angelo B. Cefalù, MD, PhD, Maurizio R. Averna, MD 
Journal of Clinical Lipidology 
Volume 12, Issue 1, Pages (January 2018)
DOI: /j.jacl
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2. Figure 1
Pedigree of the family carrier of the ARH1 mutation. The proband is indicated by a black arrow, squares indicate male subjects, and circles indicate female subjects. Solid black symbols indicate ARH1 homozygous individuals, half-shaded symbols indicate ARH1 heterozygotes and empty symbols indicate noncarriers. Roman and Arabic numerals to the lower of each symbol indicate the generation and the individual family member respectively. The column of 6 values under each symbol indicates, from top to bottom, the age in years TC (total cholesterol), TG (triglycerides), HDL-C (high-density lipoprotein cholesterol), LDL-C (low-density lipoprotein cholesterol) levels in mg/dL and in brackets in mmol/L, APOE genotype. He, heterozygous; Ho, homozygous.
Journal of Clinical Lipidology  , DOI: ( /j.jacl )
Copyright © 2017 National Lipid Association Terms and Conditions

3. Figure 2
Geographic distribution of individuals with autosomal recessive hypercholesterolemia and ARH alleles in Sicily. The black arrows indicate the geographical areas corresponding to Ventimiglia Heart Study and Zabùt Aging Project populations, respectively. The white arrows indicate families affected by ARH1 based on geographic location. Solid black square symbols indicate ARH1 homozygous carriers and half-shaded squares indicate ARH1 heterozygous carriers.
Journal of Clinical Lipidology  , DOI: ( /j.jacl )
Copyright © 2017 National Lipid Association Terms and Conditions