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Article

Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries.

European journal of internal medicine - 1 May 2024

Alieva Asiiat, Di Costanzo Alessia, Gazzotti Marta, Reutova Olga, Usova Elena, Bakaleiko Viktoria, Arca Marcello, D'Erasmo Laura, Pellegatta Fabio, Galimberti Federica, Olmastroni Elena, Catapano Alberico L, Casula Manuela

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a genetically determined monogenic disorder of predominantly autosomal dominant inheritance. A number of studies on differences in the genetic profile of patients with FH have demonstrated the importance of a more substantive evaluation of genetic features. The aim of this study was to evaluate the genetic profile of patients with clinical FH among Italian and...

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Source

Identifiers

PMID: 38245461
DOI: 10.1016/j.ejim.2024.01.010

Genes

FH
LDLRAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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