Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.

Gustavs LatkovskisRaimonds Rescenko-KrumsGeorgijs NesterovicsMonta BrivibaVita SaripoDainus GilisElizabete TeraudaRuta MeiereGunda SkudrinaAndrejs ErglisJoana Rita Chora Mafalda Bourbon Janis Klovins

Published in: Journal of clinical medicine (2023)

Despite the high clinical likelihood of FH, confirmed P/LP variants were detected in only 20.9% of patients in the Latvian cohort when assessed with genome-wide next generation sequencing.

Keyphrases

genome wide
copy number
dna methylation
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
gene expression
single cell