Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Kirill SavostyanovAlexander PushkovIlya S ZhaninNatalya MazanovaAlexander PakhomovElena TrufanovaAlina AlexeevaDmitry SladkovLudmila KuzenkovaAliy AsanovAndrey Fisenko

Published in: Genes (2023)

The results of a large-scale selective FD screening, as well as clinical and molecular genetic features, in a cohort of 293 Russian patients with FD are described.

Keyphrases

copy number
genome wide
replacement therapy
hypertrophic cardiomyopathy
heart failure
gene expression
dna methylation
smoking cessation