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Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred |
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| Authors: | Rossella Spina Davide Noto Carlo M. Barbagallo Roberto Monastero Valeria Ingrassia Vincenza Valenti Roberta Baschi Antonina Pipitone Antonina Giammanco Maria P. La Spada Gabriella Misiano Chiara Scrimali Angelo B. Cefalù Maurizio R. Averna |
| Affiliation: | 1. Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy;2. Molecular Biology Diagnostic Laboratory, Central Laboratory of Advanced Diagnosis and Biomedical Research (CLADIBIOR), Department of Diagnostic Laboratory, AOUP “Paolo Giaccone”, Palermo, Italy;3. Department of Experimental Biomedicine and Clinical Neuroscience (BioNeC), University of Palermo, Palermo, Italy |
| Abstract: | |
| Keywords: | Autosomal recessive hypercholesterolemia ARH1 Heterozygous carriers Allele frequency NGS-based gene panel |
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