| 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 : |
| PubMedSearch : Bychkov_2019_Mol.Genet.Metab_127_212 |
| PubMedID: 31230978 |
| Gene_locus related to this paper: human-LIPA |