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Article

[Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents].

Revista medica de Chile - 1 Sept 2021

Sánchez Andrea, Bustos Paulina, Honorato Paula, Sáez Katia, Elim-Jannes Cinthia, Barriga Natalia, Ibieta Guillermo, Pérez Luis, Alonso Rodrigo, Radojkovic Claudia, Asenjo Sylvia

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). AIM: To identify genetic variants associated with FH in a population of children and adolescents with hypercholesterolemia or a family history of-demonstrated early CVD. MATERIAL AND METHODS: Clinical and biochemical...

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PMID: 35319679
DOI: 10.4067/S0034-98872021000901267

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