Article ID Journal Published Year Pages File Type
8668515 Journal of Clinical Lipidology 2018 21 Pages PDF
Abstract
The identification of a new case of ARH in Sicily among 50 clinically diagnosed FH highlights the importance of next-generation sequencing analysis as tool to improve the FH diagnosis. Our results also indicate that ARH1 carrier status is present in ∼1:2500 of Sicilian inhabitants, confirming that ARH is extremely rare outside Sardinia.
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Authors
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