[Analysis of gene variant spectrum associated with Familial hypercholesterolemia in a regional population: A retrospective study based on exome sequencing of 15 841 cases].

Abstract excerpt

OBJECTIVE: To explore the genetic variant spectrum and epidemiological characteristics of Familial hypercholesterolemia (FH) patients in a regional population. METHODS: A retrospective analysis was carried out on exome data from 15 841 unrelated patients undergoing trio-whole exome sequencing and couples undergoing comprehensive carrier screening at the Affiliated Women and Children's Hospital of Ningbo...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Apolipoprotein B-100