Publication in Molecular Genetics and Metabolism Journal
The researchers of the FSBI RCMG Hereditary Metabolic Diseases Laboratory (headed by Zakharova E.Yu. – Doctor of med. sci.) published an article in the
Molecular Genetics and Metabolism (IF=3,6), Q2:
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency
Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY.
Mol Genet Metab. 2019 Jun 15. pii: S1096-7192(19)30196-9. doi: 10.1016/j.ymgme.2019.06.005..
The article provides a functional analysis of the synonymous replacement in the lysosomal acid lipase gene and presents modern possibilities for proving the pathogenicity of nucleotide variants that do not lead to amino acid substitution.