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

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

Background: Fabry disease (FD) is a rare hereditary multisystem disease caused by variants of the <i>GLA</i> gene. Determination of <i>GLA</i> gene variants and identification of genotype–phenotype correlations allow us to explain the features of FD associated with predominan...

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Bibliographic Details
Main Authors: Kirill Savostyanov, Alexander Pushkov, Ilya Zhanin, Natalya Mazanova, Alexander Pakhomov, Elena Trufanova, Alina Alexeeva, Dmitry Sladkov, Ludmila Kuzenkova, Aliy Asanov, Andrey Fisenko
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:Genes
Subjects:
Fabry disease
selective screening
hypertrophic cardiomyopathy
NGS
α-gal A
lyso-Gb3
Online Access:https://www.mdpi.com/2073-4425/14/11/2016

Internet

https://www.mdpi.com/2073-4425/14/11/2016

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