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 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, bot...

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Detalles Bibliográficos
Autores principales: Savostyanov, Kirill, Pushkov, Alexander, Zhanin, Ilya, Mazanova, Natalya, Pakhomov, Alexander, Trufanova, Elena, Alexeeva, Alina, Sladkov, Dmitry, Kuzenkova, Ludmila, Asanov, Aliy, Fisenko, Andrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671142/
https://www.ncbi.nlm.nih.gov/pubmed/38002959
http://dx.doi.org/10.3390/genes14112016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671142/
https://www.ncbi.nlm.nih.gov/pubmed/38002959
http://dx.doi.org/10.3390/genes14112016

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