| Title : The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency - Bychkov_2019_Mol.Genet.Metab_127_212 |
| Author(s) : Bychkov IO , Kamenets EA , Filatova AY , Skoblov MY , Mikhaylova SV , Strokova TV , Gundobina OS , Zakharova EY |
| Ref : Mol Genet Metab , 127 :212 , 2019 |
| Abstract : Bychkov_2019_Mol.Genet.Metab_127_212 |
| ESTHER : Bychkov_2019_Mol.Genet.Metab_127_212 |
| PubMedSearch : Bychkov_2019_Mol.Genet.Metab_127_212 |
| PubMedID: 31230978 |
| Gene_locus related to this paper: human-LIPA |
| Gene_locus related to this paper: human-LIPA |
Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY (2019)
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency
Mol Genet Metab
127 :212
Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY (2019)
Mol Genet Metab
127 :212