Article
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Genes - 28 Oct 2023
Savostyanov Kirill, Pushkov Alexander, Zhanin Ilya, Mazanova Natalya, Pakhomov Alexander, Trufanova Elena, Alexeeva Alina, Sladkov Dmitry, Kuzenkova Ludmila, Asanov Aliy, Fisenko Andrey
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a rare hereditary multisystem disease caused by variants of the GLA gene. Determination of GLA gene variants and identification of genotype-phenotype correlations allow us to explain the features of FD associated with predominant damage of one or another system, both in the classical and atypical forms of FD, as well as in cases with late manifestation and involvement of one of...
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