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Article

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.

Journal of clinical lipidology - 1 Jan 2000

Spina Rossella, Noto Davide, Barbagallo Carlo M, Monastero Roberto, Ingrassia Valeria, Valenti Vincenza, Baschi Roberta, Pipitone Antonina, Giammanco Antonina, La Spada Maria P, Misiano Gabriella, Scrimali Chiara, Cefalù Angelo B, Averna Maurizio R

Abstract excerpt

BACKGROUND: Autosomal recessive hypercholesterolemia (ARH) is a rare inherited lipid disorder. In Sardinia, differently from other world regions, the mutated allele frequency is high. It is caused by mutations in the low-density lipoprotein receptor adaptor protein 1 gene. Fourteen different mutations have been reported so far; in Sardinia, 2 alleles (ARH1 and ARH2) explain most of the cases. Four ARH patients,...

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Share to Adaptor Proteins, Signal Transducing
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29153781
DOI: 10.1016/j.jacl.2017.10.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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